variant_consequences
Annotate every call in a VCF or BCF in this project against the transcripts of a GenBank reference: the Sequence Ontology term per transcript, Ensembl's IMPACT, HGVS c. and p., the CDS and protein positions, and the distance for an upstream, downstream or intronic call. Each call's most severe consequence is picked by Ensembl's own ranking. A symbolic allele, or a REF the reference does not carry at that position, is reported as not annotated rather than read against the wrong sequence. A CDS naming no /transl_table is read on the standard code, as INSDC specifies.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| file | No | which call set in this project, by name. Unset, it is the project's only one, and it refuses rather than guessing when there is more than one. | |
| limit | No | how many calls to return in `calls`; the counts are always of all of them. Advanced. | |
| _files | No | The project: record references shaped like _subject. Their records become library documents a tool names in sequences/parts/document; a trace or alignment is found by file name. | |
| offset | No | the coordinate the reference's FIRST base has in the call set's contig. Default 1, the reference is the whole contig; a region cut out of a genome sets where it was cut from. | |
| _subject | No | The record to act on: exactly one of sequence, accession (+source), sample (an id from list_samples) or file ({name, text} or {name, base64}); record_index picks one record of several. | |
| reference | No | the GenBank file the calls were made against, by name. Unset, every GenBank file in the project is a candidate: one is used for every call, several are matched to each call by its CHROM (accession or LOCUS). | |
| min_impact | No | keep only calls whose most severe consequence is rated at least this. Unset keeps every call. | |
| up_down_stream_bp | No | how far from a transcript a call still counts as upstream or downstream of it. SnpEff’s own default is 5,000; the window decides how many annotations each call gets. In bp. |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| calls | Yes | one row per ALT allele: chrom, pos, ref, alt, the most severe term, its IMPACT, gene, transcript, HGVS c. and p., and why it was not annotated when it was not | |
| by_term | Yes | how many calls have each most-severe term, over all of them | |
| summary | Yes | what the set holds, generated from the annotation | |
| annotated | Yes | alleles annotated | |
| annotations | Yes | every consequence of every returned call, one per transcript it reaches | |
| not_annotated | Yes | alleles skipped, each with its reason in `calls` |