ClinVar

Search ClinVar

Search ClinVar (NCBI), the public archive of human genetic variants and their clinical significance, from Assyro's weekly copy: find variants by gene symbol, condition, dbSNP rsId, part of the variant's HGVS name (e.g. "c.68_69del", "p.Gly12Asp") or free words, and narrow by classification (pathogenic, likely pathogenic, uncertain significance, likely benign, benign, conflicting...), review status stars (0-4: 3 is an expert panel, 4 a practice guideline) or date last evaluated. Each result gives the VCV accession, ClinVar's aggregate germline classification, review status, date last evaluated, genes and conditions. Without words, the best reviewed and most recently evaluated come first. Call read_clinvar_variant for locations on GRCh37/GRCh38, every condition, RCV accessions and somatic classifications.

get/v1/sources/clinvar/search

Request

  • Base URL
    https://api.assyro.com
  • Auth
    none declared

Query parameters

querystring

Words in the variant name, gene, conditions or identifiers, e.g. "CFTR cystic fibrosis".

genestring

An HGNC gene symbol, e.g. "BRCA1".

conditionstring

A condition name or part of one, e.g. "Lynch syndrome".

variantstring

Part of the variant's HGVS name, in order, e.g. "c.68_69del" or "p.Arg1699Trp".

clinicalSignificance'pathogenic' | 'likely pathogenic' | 'uncertain significance' | 'likely benign' | 'benign' | 'conflicting' | 'low penetrance' | 'risk factor' | 'drug response' | 'association' | 'protective' | 'affects' | 'other' | 'not provided'

Keep variants whose aggregate germline classification includes this term.

minReviewStarsinteger

Keep variants with at least this many review status stars (2: multiple submitters, no conflicts).

rsIdstring

A dbSNP id, e.g. "rs80357914".

evaluatedFromstring

Last evaluated on or after this date (YYYY-MM-DD).

evaluatedTostring

Last evaluated on or before this date (YYYY-MM-DD).

limitinteger

Variants to return, default 8.

offsetinteger

Skip this many results (for paging), default 0.

Response

Matching records.

versionunknown required
totalinteger nullable required

Total matches the source reports, when it says.

notestring
summarystring[]

Changes

No recorded changes to this operation across all 1 revision of this API.