id

String

Unique variant ID, the format is chrom:pos:ref:alt

chromosome

String

The chromosome where the genomic variation occurred

start

int

The normalised position where the genomic variation starts

end

int

The normalised position where the genomic variation ends

reference

String

Reference allele 

alternate

String

Alternate allele

ancestralAllele

String


xrefs

List<Xref>


hgvs

List<String>

Alternate allele

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