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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: 9-112063019-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=112063019&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 112063019,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001282640.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1768G>T",
"hgvs_p": "p.Glu590*",
"transcript": "NM_022486.5",
"protein_id": "NP_071931.2",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 747,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374270.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022486.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1768G>T",
"hgvs_p": "p.Glu590*",
"transcript": "ENST00000374270.8",
"protein_id": "ENSP00000363388.4",
"transcript_support_level": 1,
"aa_start": 590,
"aa_end": null,
"aa_length": 747,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022486.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374270.8"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1768G>T",
"hgvs_p": "p.Glu590*",
"transcript": "ENST00000374264.6",
"protein_id": "ENSP00000363382.2",
"transcript_support_level": 1,
"aa_start": 590,
"aa_end": null,
"aa_length": 757,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374264.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1768G>T",
"hgvs_p": "p.Glu590*",
"transcript": "NM_001282640.2",
"protein_id": "NP_001269569.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 757,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282640.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1765G>T",
"hgvs_p": "p.Glu589*",
"transcript": "ENST00000861057.1",
"protein_id": "ENSP00000531116.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 746,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861057.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1768G>T",
"hgvs_p": "p.Glu590*",
"transcript": "NM_001282643.2",
"protein_id": "NP_001269572.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 722,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282643.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1768G>T",
"hgvs_p": "p.Glu590*",
"transcript": "ENST00000374263.7",
"protein_id": "ENSP00000363381.3",
"transcript_support_level": 2,
"aa_start": 590,
"aa_end": null,
"aa_length": 722,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374263.7"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1768G>T",
"hgvs_p": "p.Glu590*",
"transcript": "ENST00000861056.1",
"protein_id": "ENSP00000531115.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 720,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861056.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1762G>T",
"hgvs_p": "p.Glu588*",
"transcript": "ENST00000861059.1",
"protein_id": "ENSP00000531118.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 718,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861059.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1717G>T",
"hgvs_p": "p.Glu573*",
"transcript": "ENST00000355396.7",
"protein_id": "ENSP00000347558.3",
"transcript_support_level": 2,
"aa_start": 573,
"aa_end": null,
"aa_length": 705,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355396.7"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1612G>T",
"hgvs_p": "p.Glu538*",
"transcript": "ENST00000960398.1",
"protein_id": "ENSP00000630457.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 695,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960398.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1588G>T",
"hgvs_p": "p.Glu530*",
"transcript": "ENST00000931618.1",
"protein_id": "ENSP00000601677.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 687,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931618.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1588G>T",
"hgvs_p": "p.Glu530*",
"transcript": "ENST00000960399.1",
"protein_id": "ENSP00000630458.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 687,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960399.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1489G>T",
"hgvs_p": "p.Glu497*",
"transcript": "ENST00000861058.1",
"protein_id": "ENSP00000531117.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 654,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861058.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1309G>T",
"hgvs_p": "p.Glu437*",
"transcript": "ENST00000861054.1",
"protein_id": "ENSP00000531113.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 594,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861054.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1279G>T",
"hgvs_p": "p.Glu427*",
"transcript": "ENST00000861055.1",
"protein_id": "ENSP00000531114.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 584,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861055.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1807G>T",
"hgvs_p": "p.Glu603*",
"transcript": "XM_047423724.1",
"protein_id": "XP_047279680.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 770,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423724.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1807G>T",
"hgvs_p": "p.Glu603*",
"transcript": "XM_011518916.3",
"protein_id": "XP_011517218.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 760,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518916.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1807G>T",
"hgvs_p": "p.Glu603*",
"transcript": "XM_047423725.1",
"protein_id": "XP_047279681.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 743,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423725.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1807G>T",
"hgvs_p": "p.Glu603*",
"transcript": "XM_047423726.1",
"protein_id": "XP_047279682.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 735,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423726.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1807G>T",
"hgvs_p": "p.Glu603*",
"transcript": "XM_017015037.2",
"protein_id": "XP_016870526.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 733,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015037.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1768G>T",
"hgvs_p": "p.Glu590*",
"transcript": "XM_047423727.1",
"protein_id": "XP_047279683.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 720,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"effects": [
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}