-
Notifications
You must be signed in to change notification settings - Fork 64
Description
Sometimes, but quite often indeed, VV returns results that are totally unrelated from the initial query.
For example, today I submitted this query using the swagger UI at https://rest.variantvalidator.org/:
and got as results a variant located on chr12:
"selected_assembly": "GRCh38",
"submitted_variant": "NM_015409.5:c.4421C>T",
"transcript_description": "Homo sapiens E1A binding protein p400 (EP400), mRNA",
"validation_warnings": [
"RefSeqGene record not available"
],
"variant_exonic_positions": {
"NC_000012.11": {
"end_exon": "22",
"start_exon": "22"
},
"NC_000012.12": {
"end_exon": "22",
"start_exon": "22"
}
}
Other examples seen today returned by MobiDetails (still using the REST API):
- VV check failed for variant NM_015454.3:c.-2-243G>A with args: {'NM_003104.5:c.927G>A': {...} which means the user tried to validate a variant lying on gene LARP7 on chr4 and got results for a variant lying in gene SORD on chr15. (15h23)
- VV check failed for variant NM_002735.3:c.253A>C with args: {'NM_001330609.1:c.203C>T': {...} : variant asked on PRKAR1B on chr7 and results for WASHC5 on chr8 (15h06)
The error seems to occur whatever the select assembly is (hg19, hg38, GRCh37, GRCh38).