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SKILL.md
BioThings API Suite
Overview
BioThings is a family of high-performance biomedical annotation APIs developed at the Scripps Research Institute. The suite provides unified, up-to-date access to gene, variant, and chemical/drug annotations aggregated from dozens of authoritative sources. Three primary services cover the core entities in translational research:
MyGene.info — Gene annotations from NCBI Entrez, Ensembl, UniProt, GO, KEGG, Reactome, and 20+ sources.
MyVariant.info — Variant annotations from dbSNP, ClinVar, gnomAD, CADD, COSMIC, and 15+ sources.
MyChem.info — Drug and chemical annotations from NDC, DrugBank, ChEMBL, FDA, PubChem, and 10+ sources.
All three share identical query syntax, require no authentication, and return JSON. Free for academic and commercial use.
Authentication
No authentication or API keys are required. All endpoints are open-access.
# No API key needed — just query directly
curl "https://mygene.info/v3/query?q=BRCA1&size=1"
MyGene.info — Gene Annotations
Search Genes
GET https://mygene.info/v3/query?q={query}&size={n}
Query by gene symbol, name, Entrez ID, Ensembl ID, or keyword. Supports boolean operators (AND, OR, NOT) and field-specific queries like symbol:CDK2.
The full response includes accessions, Gene Ontology terms, pathway memberships (KEGG, Reactome, WikiPathways), protein domains (InterPro, Pfam), homology data, and genomic coordinates.
MyVariant.info — Variant Annotations
Search Variants
GET https://myvariant.info/v1/query?q={query}&size={n}
Query by rsID, HGVS notation (e.g., chr7:g.140453136A>T), gene symbol, or ClinVar significance. Returns aggregated annotations from 15+ sources.
GWAS follow-up: Annotate thousands of significant SNPs with allele frequencies (gnomAD), functional predictions (CADD, SIFT, PolyPhen), and clinical significance (ClinVar) via MyVariant.info batch queries.
Drug target mapping: Link gene symbols to pathway memberships (KEGG, Reactome) via MyGene.info, then find approved drugs targeting those pathways via MyChem.info.
Pharmacogenomics: Cross-reference variant annotations with drug metabolism data to identify clinically actionable gene-drug interactions.
Systematic reviews: Programmatically collect gene/variant metadata across large candidate lists to populate supplementary tables in genomics publications.