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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-20862376-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20862376&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DCUN1D3",
"hgnc_id": 28734,
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_173475.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ERI2",
"hgnc_id": 30541,
"hgvs_c": "c.-257+33932G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000564349.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.6702,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.4,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7847411632537842,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6136,
"cdna_start": 423,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_173475.4",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324344.9",
"protein_coding": true,
"protein_id": "NP_775746.1",
"strand": false,
"transcript": "NM_173475.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6136,
"cdna_start": 423,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000324344.9",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173475.4",
"protein_coding": true,
"protein_id": "ENSP00000319482.3",
"strand": false,
"transcript": "ENST00000324344.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 354,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000563934.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454762.1",
"strand": false,
"transcript": "ENST00000563934.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 536,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900856.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570915.1",
"strand": false,
"transcript": "ENST00000900856.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 521,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900857.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570916.1",
"strand": false,
"transcript": "ENST00000900857.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6198,
"cdna_start": 457,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000917271.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587330.1",
"strand": false,
"transcript": "ENST00000917271.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6188,
"cdna_start": 447,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917272.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587331.1",
"strand": false,
"transcript": "ENST00000917272.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4558,
"cdna_start": 389,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917273.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587332.1",
"strand": false,
"transcript": "ENST00000917273.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 439,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917274.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587333.1",
"strand": false,
"transcript": "ENST00000917274.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 304,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917275.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587334.1",
"strand": false,
"transcript": "ENST00000917275.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1485,
"cdna_start": 437,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917276.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587335.1",
"strand": false,
"transcript": "ENST00000917276.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 509,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000947782.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617841.1",
"strand": false,
"transcript": "ENST00000947782.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 362,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000947783.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617842.1",
"strand": false,
"transcript": "ENST00000947783.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1401,
"cdna_start": 414,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000947784.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617843.1",
"strand": false,
"transcript": "ENST00000947784.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": 609,
"cds_end": null,
"cds_length": 915,
"cds_start": 163,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000947785.1",
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Gly55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617844.1",
"strand": false,
"transcript": "ENST00000947785.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 598,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3657,
"cdna_start": null,
"cds_end": null,
"cds_length": 1797,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000564349.5",
"gene_hgnc_id": 30541,
"gene_symbol": "ERI2",
"hgvs_c": "c.-257+33932G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455982.1",
"strand": false,
"transcript": "ENST00000564349.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs777603187",
"effect": "missense_variant",
"frequency_reference_population": 0.0000020522054,
"gene_hgnc_id": 28734,
"gene_symbol": "DCUN1D3",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205221,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"pos": 20862376,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.257,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_173475.4"
}
]
}