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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: 6-133528730-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=133528730&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 133528730,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000355286.12",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1845C>T",
"hgvs_p": "p.Asn615Asn",
"transcript": "NM_004100.5",
"protein_id": "NP_004091.3",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 639,
"cds_start": 1845,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2303,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "ENST00000355286.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1845C>T",
"hgvs_p": "p.Asn615Asn",
"transcript": "ENST00000355286.12",
"protein_id": "ENSP00000347434.7",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 639,
"cds_start": 1845,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2303,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "NM_004100.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TARID",
"gene_hgnc_id": 50506,
"hgvs_c": "n.2261+7050G>A",
"hgvs_p": null,
"transcript": "ENST00000607033.5",
"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": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Asn621Asn",
"transcript": "NM_001301013.2",
"protein_id": "NP_001287942.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 645,
"cds_start": 1863,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Asn621Asn",
"transcript": "ENST00000531901.5",
"protein_id": "ENSP00000432770.1",
"transcript_support_level": 2,
"aa_start": 621,
"aa_end": null,
"aa_length": 645,
"cds_start": 1863,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1845C>T",
"hgvs_p": "p.Asn615Asn",
"transcript": "NM_172105.4",
"protein_id": "NP_742103.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 639,
"cds_start": 1845,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2303,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1776C>T",
"hgvs_p": "p.Asn592Asn",
"transcript": "NM_001370458.1",
"protein_id": "NP_001357387.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 616,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1776C>T",
"hgvs_p": "p.Asn592Asn",
"transcript": "NM_172103.4",
"protein_id": "NP_742101.2",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 616,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1776C>T",
"hgvs_p": "p.Asn592Asn",
"transcript": "ENST00000431403.3",
"protein_id": "ENSP00000404558.3",
"transcript_support_level": 5,
"aa_start": 592,
"aa_end": null,
"aa_length": 616,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1776C>T",
"hgvs_p": "p.Asn592Asn",
"transcript": "ENST00000525849.7",
"protein_id": "ENSP00000433219.1",
"transcript_support_level": 5,
"aa_start": 592,
"aa_end": null,
"aa_length": 616,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Asn567Asn",
"transcript": "NM_001370459.1",
"protein_id": "NP_001357388.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 591,
"cds_start": 1701,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Asn567Asn",
"transcript": "ENST00000355167.8",
"protein_id": "ENSP00000347294.4",
"transcript_support_level": 5,
"aa_start": 567,
"aa_end": null,
"aa_length": 591,
"cds_start": 1701,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1683C>T",
"hgvs_p": "p.Asn561Asn",
"transcript": "NM_001301012.2",
"protein_id": "NP_001287941.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 585,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1683C>T",
"hgvs_p": "p.Asn561Asn",
"transcript": "ENST00000452339.6",
"protein_id": "ENSP00000395916.2",
"transcript_support_level": 2,
"aa_start": 561,
"aa_end": null,
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"cds_start": 1683,
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"cdna_start": 2239,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1683C>T",
"hgvs_p": "p.Asn561Asn",
"transcript": "ENST00000706301.1",
"protein_id": "ENSP00000516341.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 585,
"cds_start": 1683,
"cds_end": null,
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"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1863C>T",
"hgvs_p": "p.Asn621Asn",
"transcript": "XM_005266851.6",
"protein_id": "XP_005266908.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1794C>T",
"hgvs_p": "p.Asn598Asn",
"transcript": "XM_047418278.1",
"protein_id": "XP_047274234.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 622,
"cds_start": 1794,
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"cds_length": 1869,
"cdna_start": 2226,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1794C>T",
"hgvs_p": "p.Asn598Asn",
"transcript": "XM_047418279.1",
"protein_id": "XP_047274235.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 622,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2226,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Asn593Asn",
"transcript": "XM_047418281.1",
"protein_id": "XP_047274237.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
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"cds_start": 1779,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1776C>T",
"hgvs_p": "p.Asn592Asn",
"transcript": "XM_047418282.1",
"protein_id": "XP_047274238.1",
"transcript_support_level": null,
"aa_start": 592,
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"aa_length": 616,
"cds_start": 1776,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Asn587Asn",
"transcript": "XM_047418283.1",
"protein_id": "XP_047274239.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 611,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Asn587Asn",
"transcript": "XM_047418284.1",
"protein_id": "XP_047274240.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 611,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
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"gnomad_genomes_homalt": 15,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.007,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000355286.12",
"gene_symbol": "EYA4",
"hgnc_id": 3522,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1845C>T",
"hgvs_p": "p.Asn615Asn"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000607033.5",
"gene_symbol": "TARID",
"hgnc_id": 50506,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2261+7050G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 10,Cardiovascular phenotype,Dilated cardiomyopathy 1J,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:8",
"phenotype_combined": "not specified|Dilated cardiomyopathy 1J|Cardiovascular phenotype|not provided|Autosomal dominant nonsyndromic hearing loss 10",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}