Cortexa research tool·genomics·cadd

CADD Get Variant Score

Get CADD deleteriousness score for a specific variant. PHRED scores: >=20 top 1% deleterious (pathogenic threshold ~15-20), >=30 top 0.1%. Input: chromosome, position, ref, alt alleles. Supports GRCh37 and GRCh38.

Livelast probed 2026-05-01 01:00Z· 861msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 861ms

Schema

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

{
  "properties": {
    "alt": {
      "description": "Alternate allele (e.g., 'T', 'C')",
      "type": "string"
    },
    "chrom": {
      "description": "Chromosome (1-22, X, Y, MT). Can include 'chr' prefix.",
      "type": "string"
    },
    "include_annotations": {
      "default": false,
      "description": "Include full annotation details in response",
      "type": "boolean"
    },
    "pos": {
      "description": "Genomic position (1-based)",
      "type": "integer"
    },
    "ref": {
      "description": "Reference allele (e.g., 'A', 'G')",
      "type": "string"
    },
    "version": {
      "default": "GRCh38-v1.7",
      "description": "CADD version and genome build",
      "enum": [
        "GRCh38-v1.7",
        "GRCh37-v1.7",
        "GRCh38-v1.6",
        "GRCh37-v1.6"
      ],
      "type": "string"
    }
  },
  "required": [
    "chrom",
    "pos",
    "ref",
    "alt"
  ],
  "type": "object"
}

Examples (1)

Default CADD Get Variant Score call

public-safeinput

{
  "alt": "",
  "chrom": "",
  "include_annotations": false,
  "pos": 1,
  "ref": ""
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_CADD_get_variant_score
Tool name: CADD_get_variant_score
Added: 2026-05-01 00:58Z
Tags: tooluniverse

Schema

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

{ "properties": { "alt": { "description": "Alternate allele (e.g., 'T', 'C')", "type": "string" }, "chrom": { "description": "Chromosome (1-22, X, Y, MT). Can include 'chr' prefix.", "type": "string" }, "include_annotations": { "default": false, "description": "Include full annotation details in response", "type": "boolean" }, "pos": { "description": "Genomic position (1-based)", "type": "integer" }, "ref": { "description": "Reference allele (e.g., 'A', 'G')", "type": "string" }, "version": { "default": "GRCh38-v1.7", "description": "CADD version and genome build", "enum": [ "GRCh38-v1.7", "GRCh37-v1.7", "GRCh38-v1.6", "GRCh37-v1.6" ], "type": "string" } }, "required": [ "chrom", "pos", "ref", "alt" ], "type": "object" }