---
title: "Interpret one public GRCh38 variant"
method: POST
path: "/public/v1/variants/interpret"
tags: ["public-variants"]
---

# Interpret one public GRCh38 variant

`POST /public/v1/variants/interpret`

## Request

- Base URL: `https://api.helena.bio` (the document declares no server; this is the origin it was published from)
- URL: `https://api.helena.bio/public/v1/variants/interpret`
- Auth: none declared

Validate, resolve, classify and project one anonymous public variant.

## Request body

- object
  - `assembly` string, required
  - `chromosome` string, required
  - `position` integer, required
  - `reference` string, required
  - `alternate` string, required

## Response `200`

Successful Response

- union
  - PublicVariantSuccessResponse
    - `transcript_representations` object, nullable
    - `contract_version` '1.0'
    - `status` 'success'
    - `identity` PublicVariantIdentity, required
      - `assembly` 'GRCh38', required
      - `chromosome` string, required
      - `position` integer, required
      - `reference` string, required
      - `alternate` string, required
      - `variant_type` 'SNV' | 'INS' | 'DEL' | 'DELINS', required
      - `canonical_key` string, required
    - `display` PublicVariantDisplay, required
      - `label` string, required
      - `hgvs_genomic` string, nullable, required
      - `hgvs_cdna` string, nullable, required
      - `hgvs_protein` string, nullable, required
    - `annotation` PublicVariantAnnotation, required
      - `gene_symbol` string, required
      - `gene_id` string, nullable, required
      - `transcript_id` string, nullable, required
      - `consequence` string, required
      - `impact` string, nullable, required
      - `biotype` string, nullable, required
      - `exon_number` string, nullable, required
      - `domains` string[], required
    - `evidence` PublicVariantEvidence, required
      - `clinvar_significance` string, nullable, required
      - `clinvar_review_stars` integer, nullable, required
      - `vcep_applied` boolean, required
      - `vcep_panel` string, nullable, required
      - `erepo_assertion` string, nullable, required
      - `erepo_panel` string, nullable, required
      - `erepo_disease` string, nullable, required
      - `clinvar` PublicClinVarEvidence, required
        - `clinical_significance` string, nullable, required
        - `review_status` string, nullable, required
        - `review_stars` integer, nullable, required
        - `variation_id` string, nullable, required
        - `rsid` string, nullable, required
        - `disease_names` string[], required
        - `protein_representation` string, nullable, required
        - `canonical_url` string, nullable, required
        - `availability` 'available' | 'no_record' | 'not_applicable' | 'unavailable', required
      - `expert` PublicExpertEvidence, required
        - `vcep_applied` boolean, required
        - `vcep_panel` string, nullable, required
        - `erepo_assertion` string, nullable, required
        - `erepo_panel` string, nullable, required
        - `erepo_disease` string, nullable, required
        - `erepo_summary` string, nullable, required
        - `erepo_url` string, nullable, required
        - `availability` 'available' | 'no_record' | 'not_applicable' | 'unavailable', required
      - `predictors` PublicPredictorEvidence, required
        - `sift` PublicPrediction, required
          - `prediction` string, nullable, required
          - `score` number, nullable, required
        - `alphamissense` PublicPrediction, required
          - `prediction` string, nullable, required
          - `score` number, nullable, required
        - `metasvm` PublicPrediction, required
          - `prediction` string, nullable, required
          - `score` number, nullable, required
        - `dann_score` number, nullable, required
        - `bayesdel_noaf` PublicPrediction, required
          - `prediction` string, nullable, required
          - `score` number, nullable, required
        - `bayesdel_addaf` PublicPrediction, required
          - `prediction` string, nullable, required
          - `score` number, nullable, required
        - `availability` 'available' | 'no_record' | 'not_applicable' | 'unavailable', required
      - `spliceai` PublicSpliceAIEvidence, required
        - `prediction` string, nullable, required
        - `max_delta_score` number, nullable, required
        - `gene` string, nullable, required
        - `ds_ag` number, nullable, required
        - `ds_al` number, nullable, required
        - `ds_dg` number, nullable, required
        - `ds_dl` number, nullable, required
        - `availability` 'available' | 'no_record' | 'not_applicable' | 'unavailable', required
      - `conservation` PublicConservationEvidence, required
        - `phylop100way_vertebrate` number, nullable, required
        - `gerp_rs` number, nullable, required
        - `availability` 'available' | 'no_record' | 'not_applicable' | 'unavailable', required
      - `gene_constraints` PublicGeneConstraintEvidence, required
        - `pli` number, nullable, required
        - `oe_lof` number, nullable, required
        - `loeuf` number, nullable, required
        - `missense_z` number, nullable, required
        - `availability` 'available' | 'no_record' | 'not_applicable' | 'unavailable', required
      - `dosage` PublicDosageEvidence, required
        - `haploinsufficiency_score` integer, nullable, required
        - `triplosensitivity_score` integer, nullable, required
        - `availability` 'available' | 'no_record' | 'not_applicable' | 'unavailable', required
      - `population` PublicPopulationEvidence, required
        - `global_allele_frequency` number, nullable, required
        - `global_allele_count` integer, nullable, required
        - `global_allele_number` integer, nullable, required
        - `homozygote_count` integer, nullable, required
        - `group_max_allele_frequency` number, nullable, required
        - `popmax_population` string, nullable, required
        - `rsid` string, nullable, required
        - `canonical_url` string, nullable, required
        - `availability` 'available' | 'no_record' | 'not_applicable' | 'unavailable', required
      - `external_links` PublicExternalLinks, required
        - `clinvar` string, nullable, required
        - `gnomad` string, nullable, required
        - `ensembl_gene` string, nullable, required
        - `ensembl_transcript` string, nullable, required
        - `clingen_erepo` string, nullable, required
    - `classification` PublicVariantClassification, required
      - `functional_evidence` PublicFunctionalEvidence
        - `qualification_profile` 'scott-mmr-dms-2022.v1', required
        - `combining_policy` 'existing_classifier', required
        - `combining_policy_version` string, required
        - `gn137_combining_rules_applied` false, required
        - `records` PublicFunctionalRecord[], required
          - `variant_key` string, required
          - `criterion` 'PS3' | 'BS3', required
          - `strength` 'Strong', required
          - `gene` string, required
          - `transcript` string, required
          - `protein_hgvs` string, required
          - `disease_id` string, required
          - `moi` string, required
          - `score_set_urn` string, required
          - `measurement_id` string, required
          - `mapping_id` string, required
          - `raw_score` number, required
          - `odds_path` number, required
          - `spliceai_delta_max` number, nullable
          - `source_versions` PublicFunctionalVersions, required
            - `specification` string, required
            - `publication` string, required
            - `calibration_controls` string, required
            - `mavedb` string, required
            - `protein_bridge` string, nullable
            - `spliceai` string, nullable
          - `source_hashes` PublicFunctionalHashes, required
            - `specification` string, required
            - `publication` string, required
            - `calibration_controls` string, required
            - `mavedb` string, required
            - `protein_bridge` string, nullable
            - `spliceai` string, nullable
          - `source_hash_kinds` PublicFunctionalHashKinds, required
            - `specification` 'source_set_sha256', required
            - `publication` 'source_set_sha256', required
            - `calibration_controls` 'source_set_sha256', required
            - `mavedb` 'source_set_sha256', required
            - `protein_bridge` 'identity_sha256', nullable
            - `spliceai` 'identity_sha256', nullable
          - `annotation_references` PublicFunctionalAnnotationReferences, required
            - `spliceai` string, nullable
          - `source_context_id` string, required
          - `publication_id` string, required
          - `references` string[], required
      - `framework` 'acmg_2015', required
      - `automated_class` 'P' | 'LP' | 'VUS' | 'LB' | 'B', required
      - `criteria` string, required
      - `confidence_score` number, required
      - `pm1_evidence_source` 'pfam' | 'uniprot' | 'pfam+uniprot', nullable, required
      - `pm1_evidence_availability` 'available' | 'no_record' | 'not_applicable' | 'unavailable', required
    - `provenance` PublicVariantProvenance, required
      - `annotation_source` 'vep_cache' | 'vep_live', nullable, required
      - `vep_version` string, required
      - `vep_cache_version` string, required
      - `reference_assembly` string, required
      - `classifier_version` string, required
      - `classifier_version_label` string, required
      - `reference_versions` PublicReferenceVersion[], required
        - `name` string, required
        - `version` string, required
      - `annotation_resolved` boolean, required
      - `classification_completed` boolean, required
    - `warnings` string[], required
    - `limitations` PublicVariantLimitations, required
      - `scope` 'Automated variant-level ACMG/AMP decision support for one GRCh38 nuclear SNV, simple indel, or delins smaller than 50 bp.'
      - `unavailable_context` 'Patient phenotype, genotype, family, segregation, de novo, case-specific, and private override evidence were not evaluated.'
      - `diagnostic_use` 'This result is not a patient diagnosis and must not be used as a substitute for qualified clinical interpretation.'
  - PublicVariantUnavailableResponse
    - `contract_version` '1.0'
    - `status` 'unavailable'
    - `identity` PublicVariantIdentity, required
      - `assembly` 'GRCh38', required
      - `chromosome` string, required
      - `position` integer, required
      - `reference` string, required
      - `alternate` string, required
      - `variant_type` 'SNV' | 'INS' | 'DEL' | 'DELINS', required
      - `canonical_key` string, required
    - `display` PublicVariantDisplay, required
      - `label` string, required
      - `hgvs_genomic` string, nullable, required
      - `hgvs_cdna` string, nullable, required
      - `hgvs_protein` string, nullable, required
    - `error` PublicVariantUnavailableError, required
      - `code` 'annotation_unavailable' | 'reference_data_unavailable' | 'classification_unavailable', required
      - `message` string, required
      - `retryable` true
    - `provenance` PublicVariantProvenance, required
      - `annotation_source` 'vep_cache' | 'vep_live', nullable, required
      - `vep_version` string, required
      - `vep_cache_version` string, required
      - `reference_assembly` string, required
      - `classifier_version` string, required
      - `classifier_version_label` string, required
      - `reference_versions` PublicReferenceVersion[], required
        - `name` string, required
        - `version` string, required
      - `annotation_resolved` boolean, required
      - `classification_completed` boolean, required
    - `warnings` string[], required
    - `limitations` PublicVariantLimitations, required
      - `scope` 'Automated variant-level ACMG/AMP decision support for one GRCh38 nuclear SNV, simple indel, or delins smaller than 50 bp.'
      - `unavailable_context` 'Patient phenotype, genotype, family, segregation, de novo, case-specific, and private override evidence were not evaluated.'
      - `diagnostic_use` 'This result is not a patient diagnosis and must not be used as a substitute for qualified clinical interpretation.'
  - PublicVariantValidationErrorResponse
    - `contract_version` '1.0'
    - `status` 'invalid_request'
    - `error` PublicVariantInvalidRequestError, required
      - `code` 'unsupported_assembly' | 'invalid_chromosome' | 'invalid_position' | 'invalid_allele' | 'multi_allelic_not_supported' | 'symbolic_allele_not_supported' | 'reference_equals_alternate' | 'unsupported_variant_class', required
      - `message` string, required
      - `retryable` false
    - `limitations` PublicVariantLimitations, required
      - `scope` 'Automated variant-level ACMG/AMP decision support for one GRCh38 nuclear SNV, simple indel, or delins smaller than 50 bp.'
      - `unavailable_context` 'Patient phenotype, genotype, family, segregation, de novo, case-specific, and private override evidence were not evaluated.'
      - `diagnostic_use` 'This result is not a patient diagnosis and must not be used as a substitute for qualified clinical interpretation.'

## Other responses

- `400`: Bad Request
- `413`: Request Entity Too Large
- `429`: Too Many Requests
- `500`: Internal Server Error
- `503`: Service Unavailable
- `504`: Gateway Timeout

---

[API](https://skmtc.dev/helena/apis/helix-insight-variant-analysis-service.md) · [All operations](https://skmtc.dev/helena/apis/helix-insight-variant-analysis-service/llms.txt) · [OpenAPI document](https://skmtc.dev/helena/apis/helix-insight-variant-analysis-service/revisions/fe51fd20cdf1?raw)