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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: 15-72345477-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72345477&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72345477,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001318825.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "NM_000520.6",
"protein_id": "NP_000511.2",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 529,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": "ENST00000268097.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000520.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "ENST00000268097.10",
"protein_id": "ENSP00000268097.6",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 529,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": "NM_000520.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268097.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Arg499Gly",
"transcript": "ENST00000567159.5",
"protein_id": "ENSP00000456489.1",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 509,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567159.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260729",
"gene_hgnc_id": null,
"hgvs_c": "n.577C>G",
"hgvs_p": null,
"transcript": "ENST00000379915.4",
"protein_id": "ENSP00000478716.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000379915.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF6-AS1",
"gene_hgnc_id": 58304,
"hgvs_c": "n.257G>C",
"hgvs_p": null,
"transcript": "ENST00000570175.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000570175.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1546C>G",
"hgvs_p": "p.Arg516Gly",
"transcript": "ENST00000861848.1",
"protein_id": "ENSP00000531907.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 546,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861848.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1528C>G",
"hgvs_p": "p.Arg510Gly",
"transcript": "NM_001318825.2",
"protein_id": "NP_001305754.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 540,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318825.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1528C>G",
"hgvs_p": "p.Arg510Gly",
"transcript": "ENST00000566304.5",
"protein_id": "ENSP00000455114.1",
"transcript_support_level": 2,
"aa_start": 510,
"aa_end": null,
"aa_length": 540,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566304.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000966316.1",
"protein_id": "ENSP00000636375.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 535,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966316.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Arg497Gly",
"transcript": "ENST00000861842.1",
"protein_id": "ENSP00000531901.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 527,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861842.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1456C>G",
"hgvs_p": "p.Arg486Gly",
"transcript": "ENST00000861845.1",
"protein_id": "ENSP00000531904.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 516,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861845.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1450C>G",
"hgvs_p": "p.Arg484Gly",
"transcript": "ENST00000966317.1",
"protein_id": "ENSP00000636376.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 514,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966317.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1408C>G",
"hgvs_p": "p.Arg470Gly",
"transcript": "ENST00000966315.1",
"protein_id": "ENSP00000636374.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 500,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966315.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1402C>G",
"hgvs_p": "p.Arg468Gly",
"transcript": "ENST00000861843.1",
"protein_id": "ENSP00000531902.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 498,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861843.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1393C>G",
"hgvs_p": "p.Arg465Gly",
"transcript": "ENST00000861846.1",
"protein_id": "ENSP00000531905.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 495,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861846.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1384C>G",
"hgvs_p": "p.Arg462Gly",
"transcript": "ENST00000966314.1",
"protein_id": "ENSP00000636373.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 492,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966314.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1336C>G",
"hgvs_p": "p.Arg446Gly",
"transcript": "ENST00000861840.1",
"protein_id": "ENSP00000531899.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 476,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861840.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Arg379Gly",
"transcript": "ENST00000966318.1",
"protein_id": "ENSP00000636377.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 409,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966318.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.1102C>G",
"hgvs_p": "p.Arg368Gly",
"transcript": "ENST00000861841.1",
"protein_id": "ENSP00000531900.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 398,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861841.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "ENST00000912240.1",
"protein_id": "ENSP00000582299.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 345,
"cds_start": 943,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912240.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.577C>G",
"hgvs_p": "p.Arg193Gly",
"transcript": "ENST00000861847.1",
"protein_id": "ENSP00000531906.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 223,
"cds_start": 577,
"cds_end": null,
"cds_length": 672,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861847.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Arg162Gly",
"transcript": "ENST00000861844.1",
"protein_id": "ENSP00000531903.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 192,
"cds_start": 484,
"cds_end": null,
"cds_length": 579,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 816,
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