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Ensembl Variation - Data access

Ensembl variation data can be accessed through:



Website

Variant data can be viewed in the browser through pages such as:

  • Gene: Variation Table and Variation Image (for all variants in a gene) e.g. for all variants in KCNE2. Structural Variation to see all structural variants overlapping the gene.
  • Transcript: Sequence, protein: list of the coding variants in protein coordinates.
  • Location: Region in Detail (Variants can be drawn using "Configure this page" at the left. The menu allows display of information in Ensembl databases along with external sources in DAS format such as DGV loci.)
  • Phenotype: A karyotype view to display the variants associated with a certain phenotype, e.g. phenotype "Glaucoma".

Examples:

Clicking on any variant on an Ensembl page will open a Variation tab with information about the flanking sequence and source for the selected variant. Links to linkage disequilibrium (LD) plots, phenotype information (for human) from EGA, OMIM and NHGRI-EBI and Ensembl genes and transcripts that include the variant can be found at the left of this tab. You may also view multiple genome alignments of various species, highlighting the variant. Ancestral sequences are included in this display.

Here are some webpage examples of different types of variants:



BioMart

BioMart can be used to export custom tables of variation data in Ensembl. Human has four variation databases in Ensembl:

  • Short variants
  • Somatic short variants
  • Structural variants
  • Somatic structural variants

All variant databases can be filtered by genes and consequences, genomic loci, phenotype and source, amongst others. BioMart is not a suitable method to export tables of all variants in a genome, and we recommend that you filter the data.

See the BioMart documentation.



FTP site

Whole genome VCF files can be found on the Ensembl FTP site. As well as files of just the variants by location, some species may have files which include phenotypes or individual genotypes.



Perl API

A comprehensive Perl Application Programme Interface (API) provides efficient access to the Ensembl Variation database.



REST API

A language agnostic RESTful API allows flexible access to the Ensembl Variation database.

  • User Guide : Sample clients and information for using the Ensembl REST APIs.
  • REST Endpoints : A complete reference to the Endpoints used in the Ensembl REST API.


MySQL database

  • Schema documentation : page describing every column of every table of the Ensembl Variation database schema.
  • Database diagram [PDF]: Variation Schema Diagram