Ensembl / ensembl-vep

The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants
https://www.ensembl.org/vep
Apache License 2.0
456 stars 151 forks source link

Parse gene and transcript version from GFF/GTF file #1762

Closed nakib103 closed 1 month ago

nakib103 commented 1 month ago

https://www.ebi.ac.uk/panda/jira/browse/ENSWBSITES-2775

Transcript version is always 1 when GFF file is used. It seems it has been hard coded. This PR fixes this issue -

Test

Test with rs699 and see if it matches transcript and gene version -

vep --id "1 230710048 rs699 A G" --force --gff /pathto/genes.gff3.bgz --fasta /pathto/Homo_sapiens.GRCh38.dna.toplevel.fa.gz --transcript_version --gene_version

Check the ticket for GFF and FASTA file location for testing.