Cortexa research tool·genomics·variant_validator

VariantValidator Gene2transcripts

Get all transcripts for a gene using VariantValidator. Returns MANE Select and MANE Plus Clinical transcript annotations, Ensembl and RefSeq transcript identifiers, genomic coordinates, and cross-references. Useful for identifying the correct transcript for variant annotation. Supports filter for MANE transcripts only or all transcripts.

Livelast probed 2026-04-30 23:07Z· 108msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 108ms

Schema

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

{
  "properties": {
    "gene": {
      "description": "Alias for gene_symbol.",
      "type": "string"
    },
    "gene_name": {
      "description": "Alias for gene_symbol.",
      "type": "string"
    },
    "gene_symbol": {
      "description": "HGNC gene symbol (e.g., 'TP53', 'BRCA1', 'EGFR'). Aliases: gene, gene_name.",
      "type": "string"
    },
    "genome_build": {
      "default": "GRCh38",
      "description": "Reference genome assembly: 'GRCh37' or 'GRCh38' (default: GRCh38)",
      "type": "string"
    },
    "transcript_set": {
      "default": "mane",
      "description": "Transcript filter: 'mane' for MANE Select/Plus Clinical only, 'refseq' for RefSeq transcripts, 'ensembl' for Ensembl, 'all' for everything",
      "type": "string"
    }
  },
  "required": [
    "gene_symbol"
  ],
  "type": "object"
}

Examples (1)

Default VariantValidator Gene2transcripts call

public-safeinput

{
  "gene": "BRCA1",
  "gene_name": "BRCA1",
  "gene_symbol": "BRCA1"
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_VariantValidator_gene2transcripts
Tool name: VariantValidator_gene2transcripts
Added: 2026-04-30 22:47Z
Tags: tooluniverse

VariantValidator Gene2transcripts

Livelast probed 2026-04-30 23:07Z· 108msCortexa

Schema

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

{ "properties": { "gene": { "description": "Alias for gene_symbol.", "type": "string" }, "gene_name": { "description": "Alias for gene_symbol.", "type": "string" }, "gene_symbol": { "description": "HGNC gene symbol (e.g., 'TP53', 'BRCA1', 'EGFR'). Aliases: gene, gene_name.", "type": "string" }, "genome_build": { "default": "GRCh38", "description": "Reference genome assembly: 'GRCh37' or 'GRCh38' (default: GRCh38)", "type": "string" }, "transcript_set": { "default": "mane", "description": "Transcript filter: 'mane' for MANE Select/Plus Clinical only, 'refseq' for RefSeq transcripts, 'ensembl' for Ensembl, 'all' for everything", "type": "string" } }, "required": [ "gene_symbol" ], "type": "object" }