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SPDI Variation Service
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
Complete Metadata
| @type | dcat:Dataset |
|---|---|
| accessLevel | public |
| bureauCode |
[
"009:25"
]
|
| contactPoint |
{
"fn": "National Library of Medicine",
"@type": "vcard:Contact",
"hasEmail": "mailto:custserv@nlm.nih.gov"
}
|
| description | 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 |
| distribution |
[
{
"@type": "dcat:Distribution",
"title": "API",
"mediaType": "text/html",
"description": "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. ",
"downloadURL": "https://api.ncbi.nlm.nih.gov/variation/v0/"
}
]
|
| identifier | https://datadiscovery.nlm.nih.gov/api/views/jy6x-w83b |
| issued | 2021-06-30 |
| keyword |
[
"api",
"data specifications",
"genetics",
"genomics",
"molecular biology",
"tools & utilities"
]
|
| landingPage | https://api.ncbi.nlm.nih.gov/variation/v0/ |
| license | http://opendefinition.org/licenses/odc-odbl/ |
| modified | 2025-06-18 |
| programCode |
[
"009:041"
]
|
| publisher |
{
"name": "National Library of Medicine",
"@type": "org:Organization"
}
|
| theme |
[
"Biology"
]
|
| title | SPDI Variation Service |
