API Documentation

Complete reference for integrating with Humanome.AI

Quick Start

Base URL

https://api.humanome.ai/v1

Authentication

Include your API key in the headers:

Authorization: Bearer YOUR_API_KEY
Content-Type: application/json

Variants API

GET/api/variants

Fetch variant information from database

Query Parameters:

geneGene symbol (required)

variantVariant nomenclature (required)

Example Request:

GET /api/variants?gene=BRCA1&variant=c.5266dupC

Example Response:

{
  "success": true,
  "data": {
    "gene": "BRCA1",
    "variant": "c.5266dupC",
    "hgvs": "NM_007294.3:c.5266dupC",
    "protein": "p.Gln1756fs",
    "clinicalSignificance": "Pathogenic",
    "alleleFrequency": 0.000012,
    "predictions": {
      "sift": "deleterious",
      "polyphen": "probably_damaging",
      "cadd": 28.5
    }
  }
}

POST/api/variants

Analyze a variant with ACMG classification

Request Body:

{
  "gene": "BRCA1",
  "variant": "c.5266dupC",
  "chromosome": "chr17",
  "position": 41234567
}

Example Response:

{
  "success": true,
  "data": {
    "gene": "BRCA1",
    "analysis": {
      "pathogenicity": "Likely Pathogenic",
      "acmgCriteria": ["PM2", "PP3", "PP2"],
      "score": 6,
      "confidence": "Medium"
    }
  }
}

Cases API

GET/api/cases

List and filter cases

Query Parameters:

idSpecific case ID (optional)

statusFilter by status (optional)

searchSearch term (optional)

Example Response:

{
  "success": true,
  "data": [
    {
      "id": "CASE-001",
      "patientId": "PT-12345",
      "status": "in-progress",
      "priority": "high",
      "variantsCount": 5
    }
  ],
  "count": 1,
  "total": 24
}

POST/api/cases

Create a new case

Request Body:

{
  "patientId": "PT-12345",
  "patientName": "John Doe",
  "priority": "high",
  "description": "Hereditary cancer screening"
}

PUT/api/cases

Update an existing case

Request Body:

{
  "id": "CASE-001",
  "status": "completed",
  "findings": ["BRCA1 variant confirmed"]
}

DELETE/api/cases

Delete a case

Query Parameters:

idCase ID (required)

Rate Limits

• Free tier: 100 requests/hour

• Pro tier: 1,000 requests/hour

• Enterprise: Custom limits

Error Codes

400Bad Request - Invalid parameters

401Unauthorized - Invalid API key

404Not Found - Resource does not exist

429Too Many Requests - Rate limit exceeded

500Internal Server Error