You can currently query DIVAS for variant frequencies, predicted functional impacts, disease annotations, or effects, by specifying either genes, dbSNP IDs, or variant keys. Multiple genes (or dbSNP, variant keys) are supported per request; separate multiple entries with comma.
Searches can be limited to variants that passed filtering criteria, to variants that result in an amino acid or CDS change, and to querying disease cohorts only.
Results will be returned as a JSON array and limited to the first 10000 records.
We kindly ask you to be sensible about using this option: do not submit hundreds of requests at once, and wait for five seconds in between requests. We reserve the right to block individual IP addresses should we register an inappropriate bulk access.
This will return the population frequencies of all variants observed for the given rs-numbers, where each variant has to be observed in at least one disease cohort, and each variant needs to have passed the filtering criteria for the study it was observed in. Variants that never passed a filtering criterion for any of the studies in DIVAS will not be returned.
This query will return all functional predictions (scores from SIFT, Polyphen-2, MutationAssessor, among others) for all variants found for the given dbSNP IDs in any of the cohorts in DIVAS and that result in an amino acid change. You can use cdschange accordingly.
Lists all phenotypes annotated for the given dbSNP IDs, separate by source: ClinVar, COSMIC, OMIM, SwissVar, and HGMD (note that the latter is not available to all users).
Note that queries by gene might take a few minutes to finish, especially if they are not limited by proteinchange, diseaseonly, etc.
We will keep adding resources and arguments, for example, to query for disease annotations or by using chromosomal coordinates, as well as defining filters based on particular diseases.
|Resources:||frequency, prediction, impact, disease|
|Arguments:||gene, dbsnp, vkey|
|Optional arguments:||passonly, diseaseonly, proteinchange, cdschange|