Cortexa research tool·structure·gnomad

Gnomad Get Sv By Gene

Get structural variants (SVs) from gnomAD v4 for a gene. Returns deletions, duplications, inversions, translocations, and complex SVs with population allele frequencies, SV type, consequence, and homozygote counts. Essential for interpreting CNVs in clinical genomics.

Livelast probed 2026-05-01 01:00Z· 422msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 422ms

Schema

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

{
  "properties": {
    "gene_symbol": {
      "description": "Gene symbol (e.g., 'BRCA1', 'TP53', 'MECP2')",
      "type": "string"
    },
    "reference_genome": {
      "default": "GRCh38",
      "description": "Reference genome assembly.",
      "enum": [
        "GRCh37",
        "GRCh38"
      ],
      "type": "string"
    }
  },
  "required": [
    "gene_symbol"
  ],
  "type": "object"
}

Examples (1)

Default Gnomad Get Sv By Gene call

public-safeinput

{
  "gene_symbol": "BRCA1"
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_gnomad_get_sv_by_gene
Tool name: gnomad_get_sv_by_gene
Added: 2026-05-01 00:58Z
Tags: tooluniverse

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