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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: 9-99149258-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=99149258&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 99149258,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000374994.9",
"consequences": [
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1465A>T",
"hgvs_p": "p.Lys489*",
"transcript": "NM_004612.4",
"protein_id": "NP_004603.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 503,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": "ENST00000374994.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": true,
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1465A>T",
"hgvs_p": "p.Lys489*",
"transcript": "ENST00000374994.9",
"protein_id": "ENSP00000364133.4",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 503,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": "NM_004612.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1477A>T",
"hgvs_p": "p.Lys493*",
"transcript": "ENST00000552516.5",
"protein_id": "ENSP00000447297.1",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 507,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1234A>T",
"hgvs_p": "p.Lys412*",
"transcript": "ENST00000374990.6",
"protein_id": "ENSP00000364129.2",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 426,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 5720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1477A>T",
"hgvs_p": "p.Lys493*",
"transcript": "NM_001306210.2",
"protein_id": "NP_001293139.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 507,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1462A>T",
"hgvs_p": "p.Lys488*",
"transcript": "ENST00000714345.1",
"protein_id": "ENSP00000519616.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 502,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1387A>T",
"hgvs_p": "p.Lys463*",
"transcript": "ENST00000714348.1",
"protein_id": "ENSP00000519619.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 477,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 5859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1309A>T",
"hgvs_p": "p.Lys437*",
"transcript": "NM_001407416.1",
"protein_id": "NP_001394345.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 451,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1297A>T",
"hgvs_p": "p.Lys433*",
"transcript": "NM_001407417.1",
"protein_id": "NP_001394346.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 447,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 6324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1270A>T",
"hgvs_p": "p.Lys424*",
"transcript": "NM_001407418.1",
"protein_id": "NP_001394347.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 438,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 6409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1270A>T",
"hgvs_p": "p.Lys424*",
"transcript": "NM_001407419.1",
"protein_id": "NP_001394348.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 438,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1270A>T",
"hgvs_p": "p.Lys424*",
"transcript": "NM_001407420.1",
"protein_id": "NP_001394349.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 438,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 6640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1270A>T",
"hgvs_p": "p.Lys424*",
"transcript": "NM_001407422.1",
"protein_id": "NP_001394351.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 438,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 6609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1270A>T",
"hgvs_p": "p.Lys424*",
"transcript": "ENST00000552573.7",
"protein_id": "ENSP00000447182.3",
"transcript_support_level": 4,
"aa_start": 424,
"aa_end": null,
"aa_length": 438,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 6351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1270A>T",
"hgvs_p": "p.Lys424*",
"transcript": "ENST00000698941.1",
"protein_id": "ENSP00000514048.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 438,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1258A>T",
"hgvs_p": "p.Lys420*",
"transcript": "NM_001407423.1",
"protein_id": "NP_001394352.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 434,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1258A>T",
"hgvs_p": "p.Lys420*",
"transcript": "NM_001407424.1",
"protein_id": "NP_001394353.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 434,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1258A>T",
"hgvs_p": "p.Lys420*",
"transcript": "NM_001407425.1",
"protein_id": "NP_001394354.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 434,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1258A>T",
"hgvs_p": "p.Lys420*",
"transcript": "NM_001407426.1",
"protein_id": "NP_001394355.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 434,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 6597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1258A>T",
"hgvs_p": "p.Lys420*",
"transcript": "NM_001407427.1",
"protein_id": "NP_001394356.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 434,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1258A>T",
"hgvs_p": "p.Lys420*",
"transcript": "NM_001407428.1",
"protein_id": "NP_001394357.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 434,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 6552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1258A>T",
"hgvs_p": "p.Lys420*",
"transcript": "NM_001407429.1",
"protein_id": "NP_001394358.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 434,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"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": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1258A>T",
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}
],
"message": null
}