GenoMatrix™ API Documentation

16 standardized endpoints · RESTful design · Complete equine genomics data interface

🔗 Base URL: https://api.genomatrix.ai/v1

📡 System Endpoints

GET/System root information

Returns API version, service status, and available endpoint metadata.

Response 200
{
  "service": "GenoMatrix EQAI OS",
  "version": "2.0.0",
  "status": "online",
  "database": "full",
  "endpoints": 16,
  "genes_loaded": 41896,
  "variants_loaded": 40150000
}

GET/api/v1/statusSystem runtime status

Returns system operational status, database connectivity, and resource utilization.

Response 200
{
  "status": "operational",
  "uptime": "45d 12h 33m",
  "database": { "status": "connected", "tables": 982 },
  "memory": { "used": "14.2 GB", "total": "32 GB" }
}

GET/healthHealth check

Lightweight health check endpoint for load balancers and monitoring systems.

Response 200
{ "status": "healthy", "timestamp": "2026-07-09T14:30:00Z" }

🧬 Gene Queries

GET/api/v1/genesList all genes

Returns all available genes in the system. Supports pagination and search filtering.

Query Parameters

Parameter	Type	Required	Description
`page`	integer	No	Page number, default 1
`limit`	integer	No	Results per page, default 50, max 200
`search`	string	No	Search by gene name
`chromosome`	string	No	Filter by chromosome (e.g., chr1, chrX)

Response 200
{
  "total": 41896,
  "page": 1,
  "data": [{
    "gene": "MSTN",
    "name": "Myostatin",
    "chromosome": "chr1",
    "start": 66446558,
    "end": 66451558,
    "biotype": "protein_coding",
    "variants_count": 1247
  }]
}

GET/api/v1/gene/{symbol}Single gene details

Returns complete information for a specified gene, including coordinates, functional annotations, associated variants, and causal evidence.

Path Parameters

Parameter	Type	Description
`symbol`	string	Gene symbol (e.g., MSTN, DMRT3, BDNF)

Response 200 — MSTN Example
{
  "gene": "MSTN",
  "name": "Myostatin",
  "chromosome": "chr1",
  "start": 66446558, "end": 66451558,
  "biotype": "protein_coding",
  "description": "Growth differentiation factor 8, regulates muscle development",
  "causal_variants": 23,
  "ncds_tier": "A",
  "sport_association": ["sprint", "endurance"]
}

GET/api/v1/gene/{symbol}/variantsGene variant positions

Returns all variant positions within a gene region, including VEP annotations and SIFT/PolyPhen predictions.

Query Parameters

Parameter	Type	Description
`consequence`	string	Filter: missense, synonymous, stop_gained, etc.
`sift`	string	SIFT prediction: tolerated, deleterious
`polyphen`	string	PolyPhen: benign, possibly_damaging, probably_damaging

Response 200
{
  "gene": "MSTN", "total_variants": 1247,
  "data": [{
    "rsid": "rs1234567", "chrom": "chr1", "pos": 66448234,
    "ref": "C", "alt": "T",
    "consequence": "missense_variant",
    "sift": "deleterious",
    "polyphen": "probably_damaging",
    "causal_tier": "A"
  }]
}

🛡️ JumpHealth — Hereditary Disease Screening

GET/api/v1/jumphealth/breedsSupported breeds

Returns all breeds supported by the JumpHealth system and their preconfigured disease panels.

Response 200
{
  "total_breeds": 400,
  "data": [
    { "breed": "Thoroughbred", "panel_size": 12 },
    { "breed": "Quarter Horse", "panel_size": 10 },
    { "breed": "Arabian", "panel_size": 9 }
  ]
}

POST/api/v1/jumphealth/reportGenerate hereditary disease report

Generates a JumpHealth hereditary disease risk assessment report based on breed and genotype data.

Request Body (JSON)

Field	Type	Required	Description
`breed`	string	Yes	Breed name
`genotype`	object	No	Genotype data (rsid: allele)

Response 200
{
  "report_id": "JH-2026-070901",
  "breed": "Quarter Horse",
  "diseases_screened": 10,
  "results": [
    { "disease": "HYPP", "gene": "SCN4A", "status": "Clear", "risk_level": "low" },
    { "disease": "PSSM1", "gene": "GYS1", "status": "Carrier", "risk_level": "moderate" }
  ]
}

GET/api/v1/jumphealth/diseasesDisease panel list

Returns all screenable hereditary diseases and their associated genes.

Response 200
{
  "total": 12,
  "data": [
    { "disease": "HYPP", "gene": "SCN4A", "inheritance": "autosomal_dominant" },
    { "disease": "PSSM1", "gene": "GYS1", "inheritance": "autosomal_dominant" },
    { "disease": "HERDA", "gene": "PPIB", "inheritance": "autosomal_recessive" },
    { "disease": "GBED", "gene": "GYG1", "inheritance": "autosomal_recessive" },
    { "disease": "MH", "gene": "RYR1", "inheritance": "autosomal_dominant" }
  ]
}

🧠 NCDS Model

GET/api/v1/ncds/summaryNCDS v3.4 model summary

Returns complete architecture information for the NCDS v3.4 (Neuro-Centric Differentiable System) model.

Response 200
{
  "model": "NCDS", "version": "3.4",
  "full_name": "Neuro-Centric Differentiable System",
  "total_genes": 102,
  "modules": {
    "neuro": { "genes": 34, "function": "Neural regulation & signal transduction" },
    "skeletal": { "genes": 38, "function": "Skeletal development & muscle function" },
    "developmental": { "genes": 30, "function": "Growth development & metabolic regulation" }
  },
  "validation_rate": 0.90, "sport_engines": 7
}

GET/api/v1/ncds/genesNCDS functional gene list

Returns the complete list of 102 functional genes in the NCDS model with module assignments and annotations.

Response 200
{
  "total": 102,
  "data": [{
    "gene": "MSTN", "module": "skeletal", "tier": "A",
    "role": "Negative regulator of muscle growth", "validated": true
  }]
}

🏇 Breeds & Athletics

GET/api/v1/breedsBreed data overview

Returns equine breed data overview including breed listings and allele frequency statistics.

Response 200
{
  "total_breeds": 400,
  "data": [
    { "breed": "Thoroughbred", "samples": 512, "variants": 39800000 },
    { "breed": "Arabian", "samples": 328, "variants": 38900000 }
  ]
}

GET/api/v1/sport/profileAthletic aptitude assessment

NCDS model-based athletic aptitude classification and performance prediction.

Response 200
{
  "breed": "Thoroughbred",
  "sport_scores": {
    "sprint": 0.87, "endurance": 0.62,
    "dressage": 0.58, "jumping": 0.71, "racing": 0.92
  }
}

GET/api/v1/knowledge-graphKnowledge graph data

Returns gene regulatory network knowledge graph data with node and edge information.

Response 200
{
  "nodes": 5178, "edges": 125342,
  "edge_types": ["ACTIVATE", "INHIBIT", "MODULATE"]
}

🔬 Advanced Endpoints

GET/api/v1/causal-edgesCausal regulatory edges

Query causal regulatory relationships between genes, with filtering by direction, strength, and evidence source.

Response 200
{
  "total": 125342,
  "data": [{
    "source": "MSTN", "target": "ACTN3",
    "type": "INHIBIT", "score": 0.94, "evidence": "experimental"
  }]
}

GET/api/v1/structural-variantsStructural variants

Query equine structural variant data across DEL / INS / INV / DUP / CNV types.

Response 200
{
  "total": 28543,
  "types": { "DEL": 12045, "INS": 8721, "INV": 3412, "DUP": 2891, "CNV": 1474 }
}

GET/api/v1/breed-frequencyBreed allele frequency

Query allele frequency distribution for specific variant positions across different breeds.

Response 200
{
  "rsid": "rs1234567",
  "data": [
    { "breed": "Thoroughbred", "alt_freq": 0.73, "n": 512 },
    { "breed": "Arabian", "alt_freq": 0.45, "n": 328 },
    { "breed": "Mongolian", "alt_freq": 0.31, "n": 342 }
  ]
}