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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: 2-73862254-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73862254&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73862254,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000394070.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "NM_213622.4",
"protein_id": "NP_998787.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 6746,
"mane_select": "ENST00000394070.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000394070.7",
"protein_id": "ENSP00000377633.2",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 6746,
"mane_select": "NM_213622.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000394073.6",
"protein_id": "ENSP00000377636.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435*",
"transcript": "ENST00000683877.1",
"protein_id": "ENSP00000507446.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 435,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "NM_001353967.2",
"protein_id": "NP_001340896.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 6338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "NM_001353968.2",
"protein_id": "NP_001340897.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 6306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "NM_001438900.1",
"protein_id": "NP_001425829.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "NM_006463.6",
"protein_id": "NP_006454.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "NM_201647.4",
"protein_id": "NP_964010.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000339566.7",
"protein_id": "ENSP00000344742.3",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 6277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000409707.6",
"protein_id": "ENSP00000386548.1",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000682351.1",
"protein_id": "ENSP00000506833.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000682558.1",
"protein_id": "ENSP00000507014.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000683818.1",
"protein_id": "ENSP00000507658.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
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"cdna_start": 3136,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000684585.1",
"protein_id": "ENSP00000507054.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 424,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 6316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1267C>T",
"hgvs_p": "p.Arg423*",
"transcript": "ENST00000683434.1",
"protein_id": "ENSP00000507622.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 423,
"cds_start": 1267,
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"cdna_start": 1309,
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"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Arg421*",
"transcript": "ENST00000683391.1",
"protein_id": "ENSP00000506772.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 421,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Arg421*",
"transcript": "ENST00000683902.1",
"protein_id": "ENSP00000507096.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 421,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 6159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Arg394*",
"transcript": "ENST00000682352.1",
"protein_id": "ENSP00000508197.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 394,
"cds_start": 1180,
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"cdna_start": 1328,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Arg394*",
"transcript": "ENST00000682848.1",
"protein_id": "ENSP00000506775.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 394,
"cds_start": 1180,
"cds_end": null,
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"cdna_start": 1382,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289*",
"transcript": "NM_001353971.2",
"protein_id": "NP_001340900.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 289,
"cds_start": 865,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 6380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289*",
"transcript": "NM_001353972.2",
"protein_id": "NP_001340901.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 289,
"cds_start": 865,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 6017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289*",
"transcript": "NM_001353973.2",
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