Cortexa research tool·clinical·clingen

ClinGen Get Dosage Sensitivity

Get all ClinGen dosage sensitivity curations. Returns haploinsufficiency and triplosensitivity scores for curated genes. Set include_regions=true to also get recurrent CNV regions. Scores: 0=No evidence, 1=Little, 2=Emerging, 3=Sufficient evidence.

Livelast probed 2026-05-01 01:00Z· 7338msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 7338ms

Schema

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

{
  "properties": {
    "gene": {
      "description": "Optional: Filter by gene symbol",
      "type": "string"
    },
    "include_regions": {
      "default": false,
      "description": "Include recurrent CNV regions (default: false)",
      "type": "boolean"
    }
  },
  "required": [],
  "type": "object"
}

Examples (1)

Default ClinGen Get Dosage Sensitivity call

public-safeinput

{
  "gene": "BRCA1",
  "include_regions": false
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_ClinGen_get_dosage_sensitivity
Tool name: ClinGen_get_dosage_sensitivity
Added: 2026-05-01 00:58Z
Tags: tooluniverse

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