Cortexa research tool·genomics·clingen_allele

ClinGenAllele Lookup Hgvs

Look up a genetic variant by HGVS expression in the ClinGen Allele Registry to get its canonical allele identifier (CA ID) and cross-references to ClinVar, dbSNP, COSMIC, gnomAD, and other databases. Accepts genomic (NC_*), coding (NM_*), or protein (NP_*) HGVS expressions.

Livelast probed 2026-04-30 23:07Z· 99msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 99ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "hgvs": {
      "description": "HGVS expression for the variant. Examples: 'NC_000017.11:g.7674220C>T' (genomic), 'NM_000546.6:c.743G>A' (coding). Must use a valid reference sequence accession.",
      "type": "string"
    }
  },
  "required": [
    "hgvs"
  ],
  "type": "object"
}

Examples (1)

Default ClinGenAllele Lookup Hgvs call

public-safeinput

{
  "hgvs": ""
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID: tu_ClinGenAllele_lookup_hgvs
Tool name: ClinGenAllele_lookup_hgvs
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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