Database Sources
genome.sh aggregates 7 open, peer-reviewed genomic databases into a single queryable index.
ClinVarNCBI's database of clinically relevant genetic variants. Maps variants to diseases, drugs, and clinical significance.~5MgnomADPopulation frequency data from 140,000+ genomes. Shows how common a variant is across different populations.~800MdbSNPNCBI's comprehensive catalog of human genetic variation. The reference database for rsID identifiers.~1BAlphaMissenseGoogle DeepMind's AI predictions for protein-altering (missense) mutations. Classifies variants as pathogenic, benign, or ambiguous.~71MClinGenExpert-curated gene-disease associations with dosage sensitivity data. Gold standard for clinical genetics.~1.8KPharmGKBPharmacogenomics knowledge base. Links genetic variants to drug response and dosing guidelines.~27KUniProtComprehensive protein sequence and functional data. Maps genetic variants to protein structure and function.~230M
Build Your Own Database
The genome.sh CLI includes a build pipeline that downloads and imports all sources locally. You can build the full database on your machine, no API required.
genome db build --source clinvar genome db build --all genome db stats