Alignment & variants

HGVS Variant Converter (c. <-> g. <-> p.)

Parse an HGVS "c." variant description (by gene symbol, RefSeq NM_, or Ensembl ENST accession), convert it to genomic (g.) coordinates via a real, live-fetched Ensembl exon/CDS map (transcripts resolved through the bundled MANE RefSeq<->Ensembl crosswalk), apply 3'-rule normalization to any del/dup/ins, and predict the protein (p.) effect where that is safely computable. Also accepts a genomic "g." position on a chromosome or RefSeqGene (NC_/NG_, GRCh38 or GRCh37): it is validated and placed on GRCh38 by NCBI, projected onto the MANE Select transcript by Ensembl, and converted back by this tool's own engine, which must agree — so the answer rests on two independent conversions. And the "NC_/NG_(NM_…):c." form converts on the transcript in parentheses. A "c." on a RefSeq transcript outside MANE is placed by NCBI and converted on the gene's MANE Select transcript. A single amino-acid substitution ("TP53:p.Pro72Arg") is read as its codon change when exactly one single-base change produces it; otherwise every candidate is listed. Refuses cleanly — rather than guessing — for circular/mitochondrial genomes, RNA-level input, other protein-level input, uncertain/mosaic syntax, and splice-junction-adjacent or inversion protein effects.

post/hgvs_convert

Request

  • Base URL: https://seqbench.com/api/v1
  • URL: https://seqbench.com/api/v1/hgvs_convert
  • Auth: none required

Request body

variantstring required

A full HGVS description: a "c." on a gene symbol or transcript ("NM_000546.6:c.215C>G", "TP53:c.215C>G"), a "g." position on a chromosome or RefSeqGene ("NC_000017.11:g.7676154G>C", "NG_017013.2:g.16397C>G"), a "c." with its transcript in parentheses ("NC_000017.11(NM_000546.6):c.215C>G"), or a single amino-acid substitution ("TP53:p.Pro72Arg", "TP53:p.P72R"). Substitution (">"), deletion ("del"), duplication ("dup"), insertion ("ins"), delins, and inversion ("inv") are supported.

Response

Tool ran successfully.

okunknown required
toolstring required

The tool slug that ran.

resultobject required

Tool-specific output object. Its shape depends on the tool — call GET /{tool} or see the docs for each tool's fields.

Example response

{
  "provenance": {
    "apiVersion": "1.1.0"
  }
}

Changes

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