ClinVar (via E-utilities)
The NIH/NLM database of relationships among human genomic variation and phenotype, with supporting evidence. Accessible programmatically via Entrez E-utilities and via a structured FTP feed of XML/JSON variant submissions.
ClinVar (via E-utilities) is one of 20 APIs that Life Sciences publishes on the APIs.io network.
Tagged areas include Variation, Clinical Genomics, NCBI, and ClinVar. The published artifact set on APIs.io includes API documentation.