Cortexa research tool·genomics·variant_validator

VariantValidator Validate Variant

Validate and convert genetic variant descriptions using VariantValidator. Takes HGVS-formatted variant notation and returns validated variant descriptions with genomic context, transcript context, protein consequence, and cross-references. Validates variant nomenclature against current RefSeq sequences and LOVD syntax checker. Supports substitutions, deletions, insertions, duplications, inversions. Reference assemblies: GRCh37 (hg19) or GRCh38 (hg38).

Livelast probed 2026-04-30 23:07Z· 95msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 95ms

Schema

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

{
  "properties": {
    "genome_build": {
      "description": "Reference genome assembly: 'GRCh37' (hg19) or 'GRCh38' (hg38)",
      "type": "string"
    },
    "select_transcripts": {
      "description": "Transcript to validate against (e.g., 'NM_007294.4'). Use 'all' to get all transcripts for a genomic variant.",
      "type": "string"
    },
    "variant_description": {
      "description": "HGVS variant description (e.g., 'NM_007294.4:c.5266dup' for BRCA1 c.5266dupC, 'NM_000179.3:c.943C>T', 'chr17:g.43092919del')",
      "type": "string"
    }
  },
  "required": [
    "genome_build",
    "variant_description",
    "select_transcripts"
  ],
  "type": "object"
}

Examples (1)

Default VariantValidator Validate Variant call

public-safeinput

{
  "genome_build": "",
  "select_transcripts": "",
  "variant_description": ""
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_VariantValidator_validate_variant
Tool name: VariantValidator_validate_variant
Added: 2026-04-30 22:47Z
Tags: tooluniverse

VariantValidator Validate Variant

Livelast probed 2026-04-30 23:07Z· 95msCortexa

Schema

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

{ "properties": { "genome_build": { "description": "Reference genome assembly: 'GRCh37' (hg19) or 'GRCh38' (hg38)", "type": "string" }, "select_transcripts": { "description": "Transcript to validate against (e.g., 'NM_007294.4'). Use 'all' to get all transcripts for a genomic variant.", "type": "string" }, "variant_description": { "description": "HGVS variant description (e.g., 'NM_007294.4:c.5266dup' for BRCA1 c.5266dupC, 'NM_000179.3:c.943C>T', 'chr17:g.43092919del')", "type": "string" } }, "required": [ "genome_build", "variant_description", "select_transcripts" ], "type": "object" }