Cortexa research tool·genomics·intervar

InterVar Classify Variant

Classify a germline variant using ACMG/AMP 2015 standards (InterVar). Returns the clinical significance category — Pathogenic, Likely Pathogenic, Uncertain Significance, Likely Benign, or Benign — plus the activation status of all 28 evidence criteria (PVS1, PS1-PS4, PM1-PM6, PP1-PP5, BA1, BP1-BP7, BS1-BS4). Input requires genomic coordinates in hg19 or hg38. No API key needed. Example: BRCA1 c.5266dupC (chr17:41245466 G>A in hg19) is Likely Pathogenic with PM2+PP3+PP5.

Livelast probed 2026-05-01 01:00Z· 103msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 103ms

Schema

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

{
  "properties": {
    "alt": {
      "description": "Alternate allele (e.g., 'A', 'T', 'C').",
      "type": "string"
    },
    "build": {
      "default": "hg19",
      "description": "Genome build. Default: hg19.",
      "enum": [
        "hg19",
        "hg38"
      ],
      "type": "string"
    },
    "chrom": {
      "description": "Chromosome number or name. Can include 'chr' prefix (e.g., '17', 'chr17', 'X').",
      "type": "string"
    },
    "pos": {
      "description": "Genomic position (1-based).",
      "type": "integer"
    },
    "ref": {
      "description": "Reference allele (e.g., 'G', 'A', 'ATCG').",
      "type": "string"
    }
  },
  "required": [
    "chrom",
    "pos",
    "ref",
    "alt"
  ],
  "type": "object"
}

Examples (1)

Default InterVar Classify Variant call

public-safeinput

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

Expected response keys: success

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

Identifiers

Catalog ID: tu_InterVar_classify_variant
Tool name: InterVar_classify_variant
Added: 2026-05-01 00:58Z
Tags: tooluniverse

InterVar Classify Variant

Livelast probed 2026-05-01 01:00Z· 103msCortexa

Schema

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

{ "properties": { "alt": { "description": "Alternate allele (e.g., 'A', 'T', 'C').", "type": "string" }, "build": { "default": "hg19", "description": "Genome build. Default: hg19.", "enum": [ "hg19", "hg38" ], "type": "string" }, "chrom": { "description": "Chromosome number or name. Can include 'chr' prefix (e.g., '17', 'chr17', 'X').", "type": "string" }, "pos": { "description": "Genomic position (1-based).", "type": "integer" }, "ref": { "description": "Reference allele (e.g., 'G', 'A', 'ATCG').", "type": "string" } }, "required": [ "chrom", "pos", "ref", "alt" ], "type": "object" }