Overview
The SciRouter SNP annotation endpoint provides programmatic access to a curated database of over 400 clinically relevant single nucleotide polymorphisms. Each entry includes the rsID, associated gene, trait or condition, risk allele, genotype-specific interpretations, category classification, and literature source. The endpoint is free, requires no authentication, and returns JSON.
This is designed as a building block for personal genomics applications. Instead of maintaining your own annotation database, you can query this endpoint and get structured, source-referenced data ready for genotype matching.
Endpoint Reference
GET /v1/personal-genomics/annotations
Returns the full catalog of curated SNP annotations. No authentication required.
- Base URL: https://api.scirouter.ai
- Method: GET
- Auth: None required
- Query parameters:
category(optional) — filter by Traits, Pharmacogenomics, Health, Ancestry, or Neanderthal
# Fetch all annotations
curl https://api.scirouter.ai/v1/personal-genomics/annotations
# Filter by category
curl "https://api.scirouter.ai/v1/personal-genomics/annotations?category=Pharmacogenomics"Response Format
The response is a JSON object with an annotations array. Each element contains the full annotation record for one SNP:
{
"annotations": [
{
"rsid": "rs1800497",
"gene": "ANKK1/DRD2",
"trait": "Dopamine Receptor Density",
"category": "Traits",
"risk_allele": "A",
"genotype_effects": {
"GG": "Normal dopamine receptor density",
"AG": "Slightly reduced receptor density",
"AA": "Reduced receptor density (Taq1A polymorphism)"
},
"source": "GWAS Catalog",
"population_frequency": {
"global_maf": 0.21
}
}
],
"count": 412,
"version": "2026.04"
}Data Sources
Every annotation in the catalog is traced to at least one primary source:
- ClinVar — NCBI database of clinically significant variants. Used for health risk markers including BRCA1/2 tag SNPs, APOE, MTHFR, and Factor V Leiden.
- PharmGKB — Pharmacogenomics knowledge base. Used for drug-gene interactions including CYP2D6, CYP2C19, VKORC1, and DPYD metabolizer status.
- GWAS Catalog — NHGRI-EBI catalog of genome-wide association studies. Used for trait associations including eye color, hair texture, caffeine metabolism, and muscle fiber composition.
Categories
Annotations are organized into five categories:
- Traits — Physical characteristics and behavioral tendencies (eye color, hair type, taste perception, circadian rhythm, muscle composition)
- Pharmacogenomics — Drug-gene interactions affecting medication metabolism and dosing (CYP enzymes, VKORC1, DPYD, SLCO1B1)
- Health — Disease risk markers with clinical evidence (APOE for Alzheimer risk, MTHFR for folate metabolism, diabetes loci, cardiac markers)
- Ancestry — Population-informative markers with frequency differences across continental groups
- Neanderthal — Introgressed variants from Neanderthal admixture (18 markers covering hair, skin, immune, and metabolism traits)
Python Integration Example
import requests
# Fetch the full catalog
resp = requests.get(
"https://api.scirouter.ai/v1/personal-genomics/annotations"
)
data = resp.json()
annotations = data["annotations"]
print(f"Loaded {data['count']} annotations")
# Build a lookup by rsID for fast matching
lookup = {a["rsid"]: a for a in annotations}
# Check a specific variant
if "rs4988235" in lookup:
snp = lookup["rs4988235"]
print(f"{snp['trait']}: {snp['genotype_effects']}")
# Lactose Tolerance: {TT: persistent, CT: carrier, CC: intolerant}
# Filter pharmacogenomics entries
pharmgx = [a for a in annotations if a["category"] == "Pharmacogenomics"]
print(f"{len(pharmgx)} pharmacogenomics annotations")
for p in pharmgx[:3]:
print(f" {p['gene']}: {p['trait']}")Related Resources
- Try the free SNP lookup tool to query individual rsIDs in the browser
- Read the Python tutorial for building a complete genomics app with this API
- Explore the Personal Genomics Lab for a no-code upload-and-analyze experience
- Learn about variant effect prediction for deeper analysis of individual variants