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Cristina Yenyxe Gonzalez Garcia edited this page Mar 10, 2017 · 12 revisions

The European Variation Archive is an open-access database of all types of genetic variation data from all species. ​All users can download ​data from any​ ​study, or submit their own data to the archive.

Some of the submitted are not only archived, but also processed for future queries by study, gene, chromosomal location or dbSNP identifier, using two different mechanisms: the Variant Browser in our website (http://www.ebi.ac.uk/eva/?Variant%20Browser) or the REST web services API described below. The website also consumes these web services.

Archive global information

Species

Returns the number of species that have been registered in the archive.

List the species registered in the archive that are or will be ready to load in the variant browser. If the argument "loaded=true" is provided, the results will be restricted to the species already loaded in the Variant Browser.

Studies

Returns the number of studies that have been registered in the archive.

Displays information about all the studies that have been registered in the archive. By default, it searches in the list of short variation studies. The "structural=true" argument must be provided to search in the DGVA repository, containing structural variation studies.

Lists the studies available in the Variant Browser for a given species.

The species argument is mandatory and must be a combination of the fields "taxonomyCode" (hsapiens) and "assemblyCode" (grch37) from the meta/species/list web service results, described above.

Files

Returns the number of files that have been registered in the archive.

Studies

Displays information about a study. By default, it searches in the list of short variation studies. The "structural=true" argument must be provided to search in the DGVA repository, containing structural variation studies.

Displays the most basic information about a study available in the Variant Browser: name, unique identifier and number of files.

The species argument is mandatory and must be a combination of the fields "taxonomyCode" (hsapiens) and "assemblyCode" (grch37) from the meta/species/list web service results, described above.

Displays information about the files available in the Variant Browser for a given study.

The species argument is mandatory and must be a combination of the fields "taxonomyCode" (hsapiens) and "assemblyCode" (grch37) from the meta/species/list web service results, described above.

Files

Displays information about all the files available in the Variant Browser for a given species.

The species argument is mandatory and must be a combination of the fields "taxonomyCode" (hsapiens) and "assemblyCode" (grch37) from the meta/species/list web service results, described above.

Displays the URL where the given file(s) are available for download.

Variants

Retrieves the variants in a genomic region or a gene. A genomic region must be specified as chromosome:start-end.

The species argument is mandatory and must be a combination of the fields "taxonomyCode" (hsapiens) and "assemblyCode" (grch37) from the meta/species/list web service results, described above.

Other optional arguments allow to filter by different criteria:

annot-ct: Consequence type. Must be a SO accession like "SO:0001792" (without quotes).

polyphen2: Polyphen2 score. By default, it compares against the exact value, but < and > symbols can be provided like ">0.2" (without quotes).

sift: SIFT score. By default, it compares against the exact value, but < and > symbols can be provided like ">0.2" (without quotes).

studies: List of studies to restrict the search to.

For big queries (such as those by gene), it is highly recommended to paginate the results, using the following options:

limit: Maximum number of variants per page

skip: Number of variants to skip (limit * page number)

Displays information about a single variant, given an identifier (rs, ss or any other) or genomic coordinates, reference and alternate alleles.

The species argument is mandatory and must be a combination of the fields "taxonomyCode" (hsapiens) and "assemblyCode" (grch37) from the meta/species/list web service results, described above.

Checks if a given variant is available in the Variant Browser for a given species. The variant must be specified as chromosome:position:reference[:alternate].

The species argument is mandatory and must be a combination of the fields "taxonomyCode" (hsapiens) and "assemblyCode" (grch37) from the meta/species/list web service results, described above.

GA4GH

EVA implements the GA4GH Beacon and Variants API. Please note that these web services work only for human data.

Checks if a given variant is available in the Variant Browser for a given species. The variant must be specified with a reference name (chromosome), start position and alternate allele.

The optional argument "datasetIds" allows to restrict the query to a list of specific studies.

Displays information about the files available in the Variant Browser for a given dataset (equivalent to a study). The "datasetIds" argument is mandatory.

Displays information about the callsets (equivalent to samples) for a given variantset (equivalent to a file). The "variantSetIds" argument is mandatory.

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