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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: 16-7518256-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=7518256&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 7518256,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000550418.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.137C>A",
"hgvs_p": "p.Pro46His",
"transcript": "NM_018723.4",
"protein_id": "NP_061193.2",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 397,
"cds_start": 137,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": "ENST00000550418.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.137C>A",
"hgvs_p": "p.Pro46His",
"transcript": "ENST00000550418.6",
"protein_id": "ENSP00000450031.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 397,
"cds_start": 137,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": "NM_018723.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.197C>A",
"hgvs_p": "p.Pro66His",
"transcript": "NM_145893.3",
"protein_id": "NP_665900.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 395,
"cds_start": 197,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": "ENST00000355637.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.197C>A",
"hgvs_p": "p.Pro66His",
"transcript": "ENST00000355637.9",
"protein_id": "ENSP00000347855.4",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 395,
"cds_start": 197,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": "NM_145893.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.197C>A",
"hgvs_p": "p.Pro66His",
"transcript": "ENST00000311745.9",
"protein_id": "ENSP00000309117.5",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 418,
"cds_start": 197,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.197C>A",
"hgvs_p": "p.Pro66His",
"transcript": "ENST00000436368.6",
"protein_id": "ENSP00000402745.2",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 392,
"cds_start": 197,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.137C>A",
"hgvs_p": "p.Pro46His",
"transcript": "ENST00000553186.5",
"protein_id": "ENSP00000447753.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 370,
"cds_start": 137,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.137C>A",
"hgvs_p": "p.Pro46His",
"transcript": "ENST00000551752.5",
"protein_id": "ENSP00000447281.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 262,
"cds_start": 137,
"cds_end": null,
"cds_length": 789,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.137C>A",
"hgvs_p": "p.Pro46His",
"transcript": "ENST00000547605.5",
"protein_id": "ENSP00000450402.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 261,
"cds_start": 137,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205His",
"transcript": "ENST00000641259.1",
"protein_id": "ENSP00000493041.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 582,
"cds_start": 614,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.734C>A",
"hgvs_p": "p.Pro245His",
"transcript": "NM_001415887.1",
"protein_id": "NP_001402816.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 573,
"cds_start": 734,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 4485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.734C>A",
"hgvs_p": "p.Pro245His",
"transcript": "NM_001415888.1",
"protein_id": "NP_001402817.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 569,
"cds_start": 734,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Pro89His",
"transcript": "NM_001411047.1",
"protein_id": "NP_001397976.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 466,
"cds_start": 266,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Pro89His",
"transcript": "ENST00000547372.5",
"protein_id": "ENSP00000446842.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 466,
"cds_start": 266,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.245C>A",
"hgvs_p": "p.Pro82His",
"transcript": "NM_001415889.1",
"protein_id": "NP_001402818.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 459,
"cds_start": 245,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.212C>A",
"hgvs_p": "p.Pro71His",
"transcript": "NM_001415890.1",
"protein_id": "NP_001402819.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 448,
"cds_start": 212,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Pro89His",
"transcript": "NM_001415891.1",
"protein_id": "NP_001402820.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 440,
"cds_start": 266,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.245C>A",
"hgvs_p": "p.Pro82His",
"transcript": "NM_001415892.1",
"protein_id": "NP_001402821.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 433,
"cds_start": 245,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Pro89His",
"transcript": "NM_001308117.1",
"protein_id": "NP_001295046.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 425,
"cds_start": 266,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Pro89His",
"transcript": "ENST00000422070.8",
"protein_id": "ENSP00000391269.4",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 425,
"cds_start": 266,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.212C>A",
"hgvs_p": "p.Pro71His",
"transcript": "NM_001415893.1",
"protein_id": "NP_001402822.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 422,
"cds_start": 212,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.245C>A",
"hgvs_p": "p.Pro82His",
"transcript": "NM_001415894.1",
"protein_id": "NP_001402823.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 418,
"cds_start": 245,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.197C>A",
"hgvs_p": "p.Pro66His",
"transcript": "NM_145891.3",
"protein_id": "NP_665898.1",
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}
],
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}