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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: 16-2088243-A-AGTAGGGAATATGGGGCTCCGCCAGCGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2088243&ref=A&alt=AGTAGGGAATATGGGGCTCCGCCAGCGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2088243,
"ref": "A",
"alt": "AGTAGGGAATATGGGGCTCCGCCAGCGG",
"effect": "stop_gained,disruptive_inframe_insertion",
"transcript": "ENST00000219476.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q*GIWGSASG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5177_5178insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1726delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "NM_000548.5",
"protein_id": "NP_000539.2",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 1807,
"cds_start": 5178,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 5288,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": "ENST00000219476.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q*GIWGSASG",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5177_5178insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1726delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "ENST00000219476.9",
"protein_id": "ENSP00000219476.3",
"transcript_support_level": 5,
"aa_start": 1726,
"aa_end": null,
"aa_length": 1807,
"cds_start": 5178,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 5288,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": "NM_000548.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q*GIWGSASG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5108_5109insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1703delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "ENST00000350773.9",
"protein_id": "ENSP00000344383.4",
"transcript_support_level": 1,
"aa_start": 1703,
"aa_end": null,
"aa_length": 1784,
"cds_start": 5109,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 5184,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q*GIWGSASG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4976_4977insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1659delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "ENST00000401874.7",
"protein_id": "ENSP00000384468.2",
"transcript_support_level": 1,
"aa_start": 1659,
"aa_end": null,
"aa_length": 1740,
"cds_start": 4977,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 5083,
"cdna_end": null,
"cdna_length": 5437,
"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": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*4344_*4345insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": null,
"transcript": "ENST00000439117.6",
"protein_id": "ENSP00000406980.2",
"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": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*4344_*4345insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": null,
"transcript": "ENST00000439117.6",
"protein_id": "ENSP00000406980.2",
"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": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q*GIWGSASG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5267_5268insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1756delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "ENST00000645186.2",
"protein_id": "ENSP00000495110.2",
"transcript_support_level": null,
"aa_start": 1756,
"aa_end": null,
"aa_length": 1837,
"cds_start": 5268,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 5378,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q*GIWGSASG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5174_5175insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1725delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "NM_001406663.1",
"protein_id": "NP_001393592.1",
"transcript_support_level": null,
"aa_start": 1725,
"aa_end": null,
"aa_length": 1806,
"cds_start": 5175,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 5285,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q*GIWGSASG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5174_5175insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1725delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "ENST00000642365.2",
"protein_id": "ENSP00000495459.2",
"transcript_support_level": null,
"aa_start": 1725,
"aa_end": null,
"aa_length": 1806,
"cds_start": 5175,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 5246,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q*GIWGSASG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5171_5172insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1724delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "ENST00000646388.1",
"protein_id": "ENSP00000495921.1",
"transcript_support_level": null,
"aa_start": 1724,
"aa_end": null,
"aa_length": 1805,
"cds_start": 5172,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 5258,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q*GIWGSASG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5108_5109insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1703delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "NM_001114382.3",
"protein_id": "NP_001107854.1",
"transcript_support_level": null,
"aa_start": 1703,
"aa_end": null,
"aa_length": 1784,
"cds_start": 5109,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 5219,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q*GIWGSASG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
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"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5105_5106insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1702delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "NM_001406664.1",
"protein_id": "NP_001393593.1",
"transcript_support_level": null,
"aa_start": 1702,
"aa_end": null,
"aa_length": 1783,
"cds_start": 5106,
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"cds_length": 5352,
"cdna_start": 5216,
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"cdna_length": 6343,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
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"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5102_5103insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1701delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "ENST00000643946.1",
"protein_id": "ENSP00000495927.1",
"transcript_support_level": null,
"aa_start": 1701,
"aa_end": null,
"aa_length": 1782,
"cds_start": 5103,
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"cds_length": 5349,
"cdna_start": 5221,
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"cdna_length": 6344,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
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"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5099_5100insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1700delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "NM_001406665.1",
"protein_id": "NP_001393594.1",
"transcript_support_level": null,
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"cds_start": 5100,
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"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5096_5097insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1699delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "ENST00000644399.1",
"protein_id": "ENSP00000493990.1",
"transcript_support_level": null,
"aa_start": 1699,
"aa_end": null,
"aa_length": 1780,
"cds_start": 5097,
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"cdna_start": 5099,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"disruptive_inframe_insertion"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5069_5070insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1690delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "NM_001406667.1",
"protein_id": "NP_001393596.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
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"cds_start": 5070,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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"disruptive_inframe_insertion"
],
"exon_rank": 39,
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"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5066_5067insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1689delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "NM_001406668.1",
"protein_id": "NP_001393597.1",
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},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
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"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5063_5064insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1688delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "ENST00000644329.1",
"protein_id": "ENSP00000496611.1",
"transcript_support_level": null,
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"cds_start": 5064,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
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"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5048_5049insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1683delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "NM_021055.3",
"protein_id": "NP_066399.2",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1764,
"cds_start": 5049,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 5159,
"cdna_end": null,
"cdna_length": 6286,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.5048_5049insGTAGGGAATATGGGGCTCCGCCAGCGG",
"hgvs_p": "p.His1683delinsGlnTerGlyIleTrpGlySerAlaSerGly",
"transcript": "ENST00000644043.1",
"protein_id": "ENSP00000496262.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
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{
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"verdict": "Likely_pathogenic",
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],
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"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}