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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: 7-23260098-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=23260098&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 23260098,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001005340.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "NM_002510.3",
"protein_id": "NP_002501.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 560,
"cds_start": 660,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258733.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002510.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "ENST00000258733.9",
"protein_id": "ENSP00000258733.5",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 560,
"cds_start": 660,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002510.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258733.9"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "ENST00000381990.6",
"protein_id": "ENSP00000371420.2",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 572,
"cds_start": 660,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381990.6"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "ENST00000878817.1",
"protein_id": "ENSP00000548876.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 600,
"cds_start": 660,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878817.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "ENST00000647578.1",
"protein_id": "ENSP00000497362.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 588,
"cds_start": 660,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647578.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "NM_001005340.2",
"protein_id": "NP_001005340.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 572,
"cds_start": 660,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005340.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.657T>A",
"hgvs_p": "p.Tyr219*",
"transcript": "ENST00000878815.1",
"protein_id": "ENSP00000548874.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 559,
"cds_start": 657,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878815.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.486T>A",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000963722.1",
"protein_id": "ENSP00000633781.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 542,
"cds_start": 486,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963722.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.516T>A",
"hgvs_p": "p.Tyr172*",
"transcript": "ENST00000963723.1",
"protein_id": "ENSP00000633782.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 524,
"cds_start": 516,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963723.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.516T>A",
"hgvs_p": "p.Tyr172*",
"transcript": "ENST00000963721.1",
"protein_id": "ENSP00000633780.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 512,
"cds_start": 516,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963721.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.486T>A",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000878819.1",
"protein_id": "ENSP00000548878.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 502,
"cds_start": 486,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878819.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "ENST00000878820.1",
"protein_id": "ENSP00000548879.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 466,
"cds_start": 660,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878820.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "ENST00000878818.1",
"protein_id": "ENSP00000548877.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 454,
"cds_start": 660,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878818.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.189T>A",
"hgvs_p": "p.Tyr63*",
"transcript": "ENST00000963724.1",
"protein_id": "ENSP00000633783.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 403,
"cds_start": 189,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963724.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "XM_047419776.1",
"protein_id": "XP_047275732.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 572,
"cds_start": 660,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419776.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "XM_005249578.4",
"protein_id": "XP_005249635.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 531,
"cds_start": 660,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249578.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*",
"transcript": "XM_017011678.3",
"protein_id": "XP_016867167.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 519,
"cds_start": 660,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011678.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "c.542-358T>A",
"hgvs_p": null,
"transcript": "ENST00000878816.1",
"protein_id": "ENSP00000548875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": null,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878816.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"hgvs_c": "n.*45T>A",
"hgvs_p": null,
"transcript": "ENST00000465673.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465673.5"
}
],
"gene_symbol": "GPNMB",
"gene_hgnc_id": 4462,
"dbsnp": "rs770211260",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.23999999463558197,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.415,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_001005340.2",
"gene_symbol": "GPNMB",
"hgnc_id": 4462,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.660T>A",
"hgvs_p": "p.Tyr220*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}