id String | Unique variant ID, this consists of chromosome, position, reference and alternate alleles in this format: chrom:pos:ref:alt |
chromosome String | The chromosome where the genomic variant is located |
start int | The 1-based position where the genomic variant starts. For variants coming from VCF files, this position is likely to be normalised |
end int | The 1-based position where the genomic variant ends. For variants coming from VCF files, this position is likely to be normalised |
reference String | Reference allele. For variants coming from VCF files, this position is likely to be normalised |
alternate String | Alternate allele. For variants coming from VCF files, this position is likely to be normalised |
ancestralAllele String |
|
xrefs List<Xref> |
|
hgvs List<String> |
|
displayConsequenceType String |
|
consequenceTypes List<ConsequenceType> |
geneName String | HGNC gene name | ensemblGeneId String |
| ensemblTranscriptId String |
| strand String |
| biotype String |
| exonOverlap List<ExonOverlap> |
number String |
| percentage float |
|
| transcriptAnnotationFlags List<String> |
| cdnaPosition int |
| cdsPosition int |
| codon String |
| proteinVariantAnnotation ProteinVariantAnnotation |
uniprotAccession String |
| uniprotName String |
| position int |
| reference String |
| alternate String |
| uniprotVariantId String |
| functionalDescription String |
| substitutionScores List<Score> |
score double |
| source String |
| description String |
|
| keywords List<String> |
| features List<ProteinFeature> |
id String |
| start int |
| end int |
| type String |
| description String |
|
|
| sequenceOntologyTerms List<SequenceOntologyTerm> |
accession String |
| name String |
|
|
|
populationFrequencies List<PopulationFrequency> |
study String |
| population String |
| refAllele String |
| altAllele String |
| refAlleleFreq float |
| altAlleleFreq float |
| refHomGenotypeFreq float |
| hetGenotypeFreq float |
| altHomGenotypeFreq float |
|
|
minorAllele String |
|
minorAlelleFreq float |
|
conservation List<Score> |
score double |
| source String |
| description String |
|
|
geneTraitAssociation List<GeneTraitAssociation> |
id String |
| name String |
| hpo String |
| score float |
| numberOfPubmeds int |
| associationTypes List<String> |
| sources List<String> |
| source String |
|
|
geneDrugInteraction List<GeneDrugInteraction> |
geneName String |
| drugName String |
| source String |
| studyType String |
| type String |
|
|
traitAssociation List<EvidenceEntry> |
|
functionalScore List<Score> |
score double |
| source String |
| description String |
|
|
cytoband List<Cytoband> |
chromosome String |
| stain String |
| name String |
| start int |
| end int |
|
|
repeat List<Repeat> |
id String |
| chromosome String |
| start int |
| end int |
| period int |
| consensusSize int |
| copyNumber float |
| percentageMatch float |
| score float |
| sequence String |
| source String |
|
|
drugs List<Drug> |
therapeuticContext String |
| pathway String |
| effect String |
| association String |
| status String |
| evidence String |
| bibliography List<String> |
|
|
additionalAttributes Map<String, AdditionalAttribute> |
|