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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: 17-82924958-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82924958&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82924958,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000355528.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2280C>A",
"hgvs_p": "p.Tyr760*",
"transcript": "NM_005993.5",
"protein_id": "NP_005984.3",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1192,
"cds_start": 2280,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "ENST00000355528.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2280C>A",
"hgvs_p": "p.Tyr760*",
"transcript": "ENST00000355528.9",
"protein_id": "ENSP00000347719.4",
"transcript_support_level": 1,
"aa_start": 760,
"aa_end": null,
"aa_length": 1192,
"cds_start": 2280,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "NM_005993.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.938C>A",
"hgvs_p": null,
"transcript": "ENST00000571796.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1409C>A",
"hgvs_p": null,
"transcript": "ENST00000576677.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2547C>A",
"hgvs_p": "p.Tyr849*",
"transcript": "ENST00000684760.1",
"protein_id": "ENSP00000507696.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2547,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 7403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2466C>A",
"hgvs_p": "p.Tyr822*",
"transcript": "ENST00000684349.1",
"protein_id": "ENSP00000508067.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2466,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 7322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2280C>A",
"hgvs_p": "p.Tyr760*",
"transcript": "ENST00000539345.6",
"protein_id": "ENSP00000440671.2",
"transcript_support_level": 5,
"aa_start": 760,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2280,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2373C>A",
"hgvs_p": "p.Tyr791*",
"transcript": "ENST00000684464.1",
"protein_id": "ENSP00000508333.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 1223,
"cds_start": 2373,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 7252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2370C>A",
"hgvs_p": "p.Tyr790*",
"transcript": "ENST00000682479.1",
"protein_id": "ENSP00000508214.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1222,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 2522,
"cdna_end": null,
"cdna_length": 7258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2364C>A",
"hgvs_p": "p.Tyr788*",
"transcript": "ENST00000684000.1",
"protein_id": "ENSP00000506795.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2364,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 7100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2229C>A",
"hgvs_p": "p.Tyr743*",
"transcript": "NM_001411101.1",
"protein_id": "NP_001398030.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2229,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 7108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2229C>A",
"hgvs_p": "p.Tyr743*",
"transcript": "ENST00000682722.1",
"protein_id": "ENSP00000508364.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2229,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 7111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2208C>A",
"hgvs_p": "p.Tyr736*",
"transcript": "ENST00000684429.1",
"protein_id": "ENSP00000507224.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2208,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2432,
"cdna_end": null,
"cdna_length": 7168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2199C>A",
"hgvs_p": "p.Tyr733*",
"transcript": "NM_001411102.1",
"protein_id": "NP_001398031.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 7078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2199C>A",
"hgvs_p": "p.Tyr733*",
"transcript": "ENST00000684544.1",
"protein_id": "ENSP00000507337.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2336,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2196C>A",
"hgvs_p": "p.Tyr732*",
"transcript": "ENST00000683282.1",
"protein_id": "ENSP00000506913.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2196,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 7064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2091C>A",
"hgvs_p": "p.Tyr697*",
"transcript": "NM_001438250.1",
"protein_id": "NP_001425179.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2091,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 7109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2091C>A",
"hgvs_p": "p.Tyr697*",
"transcript": "ENST00000684188.1",
"protein_id": "ENSP00000507153.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2091,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1923C>A",
"hgvs_p": "p.Tyr641*",
"transcript": "NM_001437989.1",
"protein_id": "NP_001424918.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 1073,
"cds_start": 1923,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 6802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1923C>A",
"hgvs_p": "p.Tyr641*",
"transcript": "ENST00000684408.1",
"protein_id": "ENSP00000506837.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 1073,
"cds_start": 1923,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 6789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.594C>A",
"hgvs_p": "p.Tyr198*",
"transcript": "ENST00000682315.1",
"protein_id": "ENSP00000507232.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 630,
"cds_start": 594,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.594C>A",
"hgvs_p": "p.Tyr198*",
"transcript": "ENST00000683821.1",
"protein_id": "ENSP00000507651.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 630,
"cds_start": 594,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.594C>A",
"hgvs_p": "p.Tyr198*",
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}
],
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"dbsnp": "rs754750539",
"frequency_reference_population": 7.062037e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07000000029802322,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -1.01,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000355528.9",
"gene_symbol": "TBCD",
"hgnc_id": 11581,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Tyr760*"
}
],
"clinvar_disease": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}