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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: 1-23310702-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23310702&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23310702,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000374616.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Gln552*",
"transcript": "NM_005826.5",
"protein_id": "NP_005817.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 633,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": "ENST00000302271.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Gln552*",
"transcript": "ENST00000302271.11",
"protein_id": "ENSP00000304405.6",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 633,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": "NM_005826.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1663C>T",
"hgvs_p": "p.Gln555*",
"transcript": "ENST00000374616.7",
"protein_id": "ENSP00000363745.3",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 636,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Gln454*",
"transcript": "ENST00000478691.5",
"protein_id": "ENSP00000474437.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 535,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 7646,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "n.719C>T",
"hgvs_p": null,
"transcript": "ENST00000476660.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1663C>T",
"hgvs_p": "p.Gln555*",
"transcript": "NM_001102398.3",
"protein_id": "NP_001095868.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 636,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 7760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Gln552*",
"transcript": "NM_001438564.1",
"protein_id": "NP_001425493.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 633,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 7754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Gln552*",
"transcript": "ENST00000374612.5",
"protein_id": "ENSP00000363741.1",
"transcript_support_level": 5,
"aa_start": 552,
"aa_end": null,
"aa_length": 633,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1540C>T",
"hgvs_p": "p.Gln514*",
"transcript": "NM_001297620.2",
"protein_id": "NP_001284549.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 595,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 7637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1540C>T",
"hgvs_p": "p.Gln514*",
"transcript": "ENST00000463552.6",
"protein_id": "ENSP00000502509.2",
"transcript_support_level": 4,
"aa_start": 514,
"aa_end": null,
"aa_length": 595,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 7683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Gln493*",
"transcript": "NM_001437727.1",
"protein_id": "NP_001424656.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 574,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 7574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Gln493*",
"transcript": "ENST00000470941.6",
"protein_id": "ENSP00000502234.2",
"transcript_support_level": 4,
"aa_start": 493,
"aa_end": null,
"aa_length": 574,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 7574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Gln454*",
"transcript": "NM_001102399.3",
"protein_id": "NP_001095869.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 535,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 7594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1351C>T",
"hgvs_p": "p.Gln451*",
"transcript": "NM_001102397.3",
"protein_id": "NP_001095867.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 532,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 7585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1351C>T",
"hgvs_p": "p.Gln451*",
"transcript": "ENST00000476451.3",
"protein_id": "ENSP00000502301.2",
"transcript_support_level": 4,
"aa_start": 451,
"aa_end": null,
"aa_length": 532,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Gln413*",
"transcript": "NM_001297622.2",
"protein_id": "NP_001284551.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 494,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 7471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Gln413*",
"transcript": "ENST00000606561.5",
"protein_id": "ENSP00000475760.1",
"transcript_support_level": 2,
"aa_start": 413,
"aa_end": null,
"aa_length": 494,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Gln400*",
"transcript": "ENST00000675048.1",
"protein_id": "ENSP00000502029.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 481,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Gln392*",
"transcript": "NM_001297621.2",
"protein_id": "NP_001284550.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 473,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 7408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Gln580*",
"transcript": "XM_047424699.1",
"protein_id": "XP_047280655.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 661,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 8463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1735C>T",
"hgvs_p": "p.Gln579*",
"transcript": "XM_047424712.1",
"protein_id": "XP_047280668.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 660,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 8460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1729C>T",
"hgvs_p": "p.Gln577*",
"transcript": "XM_047424719.1",
"protein_id": "XP_047280675.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 658,
"cds_start": 1729,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2440,
"cdna_end": null,
"cdna_length": 8454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
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}
],
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}