Cortexa research tool·genomics·gnomad

Gnomad Get Gene

Get basic gene metadata from gnomAD by `gene_symbol` or `gene_id` (Ensembl gene ID). Use `gnomad_search_genes` to discover `gene_id`. Use the returned `canonical_transcript_id` with `gnomad_get_transcript`.

Livelast probed 2026-05-01 01:00Z· 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.

{
  "oneOf": [
    {
      "required": [
        "gene_symbol"
      ]
    },
    {
      "required": [
        "gene_id"
      ]
    }
  ],
  "properties": {
    "gene_id": {
      "description": "Ensembl gene ID (e.g., 'ENSG00000012048').",
      "type": "string"
    },
    "gene_symbol": {
      "description": "Gene symbol (e.g., 'BRCA1').",
      "type": "string"
    },
    "reference_genome": {
      "default": "GRCh38",
      "description": "Reference genome.",
      "enum": [
        "GRCh37",
        "GRCh38"
      ],
      "type": "string"
    }
  },
  "type": "object"
}

Examples (1)

Default Gnomad Get Gene call

public-safeinput

{
  "gene_id": "BRCA1",
  "gene_symbol": "BRCA1"
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_gnomad_get_gene
Tool name: gnomad_get_gene
Added: 2026-05-01 00:58Z
Tags: tooluniverse

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