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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: 13-46359610-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=46359610&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 46359610,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000429979.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "NM_025113.5",
"protein_id": "NP_079389.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 662,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 11050,
"mane_select": "ENST00000429979.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "ENST00000429979.6",
"protein_id": "ENSP00000396935.1",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
"aa_length": 662,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 11050,
"mane_select": "NM_025113.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314*",
"transcript": "ENST00000378784.8",
"protein_id": "ENSP00000368061.4",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 595,
"cds_start": 940,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166*",
"transcript": "ENST00000378797.6",
"protein_id": "ENSP00000368074.3",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 447,
"cds_start": 496,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "NM_001286761.2",
"protein_id": "NP_001273690.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 662,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "NM_001349772.2",
"protein_id": "NP_001336701.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 662,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "ENST00000389908.7",
"protein_id": "ENSP00000374558.3",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 662,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "ENST00000676114.1",
"protein_id": "ENSP00000502252.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 662,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 11293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "ENST00000676307.1",
"protein_id": "ENSP00000502015.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 662,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "NM_001286762.3",
"protein_id": "NP_001273691.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 635,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "ENST00000378787.7",
"protein_id": "ENSP00000368064.3",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 635,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"transcript": "ENST00000417405.2",
"protein_id": "ENSP00000402357.2",
"transcript_support_level": 3,
"aa_start": 381,
"aa_end": null,
"aa_length": 635,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314*",
"transcript": "NM_001286763.3",
"protein_id": "NP_001273692.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 595,
"cds_start": 940,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314*",
"transcript": "ENST00000675585.1",
"protein_id": "ENSP00000502011.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 571,
"cds_start": 940,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Arg246*",
"transcript": "NM_001286764.3",
"protein_id": "NP_001273693.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 527,
"cds_start": 736,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Arg246*",
"transcript": "ENST00000631139.2",
"protein_id": "ENSP00000485932.1",
"transcript_support_level": 2,
"aa_start": 246,
"aa_end": null,
"aa_length": 527,
"cds_start": 736,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Arg246*",
"transcript": "ENST00000676051.1",
"protein_id": "ENSP00000501843.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 527,
"cds_start": 736,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Arg224*",
"transcript": "NM_001286765.3",
"protein_id": "NP_001273694.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 505,
"cds_start": 670,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 10393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Arg224*",
"transcript": "ENST00000378781.7",
"protein_id": "ENSP00000368057.4",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 505,
"cds_start": 670,
"cds_end": null,
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"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Arg224*",
"transcript": "ENST00000409879.6",
"protein_id": "ENSP00000386578.2",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 505,
"cds_start": 670,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166*",
"transcript": "NM_001286766.3",
"protein_id": "NP_001273695.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 447,
"cds_start": 496,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 10277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166*",
"transcript": "ENST00000675992.1",
"protein_id": "ENSP00000502396.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 447,
"cds_start": 496,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCNL",
"gene_hgnc_id": 20420,
"hgvs_c": "n.*492C>T",
"hgvs_p": null,
"transcript": "ENST00000441284.6",
"protein_id": "ENSP00000412507.2",
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],
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"bayesdelnoaf_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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],
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}