SPDI Variation Service
HealthData.Gov
Updated Oct 29, 2026
About this dataset
This genetic variation services interconvert and transform short genetic variants between HGVS expressions, VCF format, and the new SPDI (Sequence Position Deletion Insertion) format, based on alignment datasets used by ClinVar and dbSNP. NOTE: This service is still in beta testing mode
Data and resources (1)
- HTML
API
dbSNP provides bulk download in VCF and JSON at https://ftp.ncbi.nih.gov/snp/latest_release/ for users with a large number of RefSNPs (>100K) to process. NOTE: This service is still in beta testing mode. Please limit your request rate to 1 request/second.
Modified Apr 29, 2026