Cortexa research tool·genomics·clingen

ClinGen Search Gene Validity

Search ClinGen gene-disease validity curations by gene symbol. Returns classification (Definitive, Strong, Moderate, Limited, Disputed, Refuted), disease associations, and inheritance patterns. Essential for ACMG variant classification. Example: BRCA1 returns validity scores for hereditary breast/ovarian cancer.

Livelast probed 2026-04-30 23:07Z· 101msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 101ms

Schema

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

{
  "properties": {
    "gene": {
      "description": "Gene symbol to search (e.g., BRCA1, TP53, CFTR)",
      "type": "string"
    }
  },
  "required": [
    "gene"
  ],
  "type": "object"
}

Examples (1)

Default ClinGen Search Gene Validity call

public-safeinput

{
  "gene": "BRCA1"
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_ClinGen_search_gene_validity
Tool name: ClinGen_search_gene_validity
Added: 2026-04-30 22:47Z
Tags: tooluniverse

Back to catalog