← Back to variant description
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: 9-81593111-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=81593111&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 81593111,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005077.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1495G>A",
"hgvs_p": "p.Val499Met",
"transcript": "NM_005077.5",
"protein_id": "NP_005068.2",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 770,
"cds_start": 1495,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": "ENST00000376499.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1495G>A",
"hgvs_p": "p.Val499Met",
"transcript": "ENST00000376499.8",
"protein_id": "ENSP00000365682.3",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 770,
"cds_start": 1495,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": "NM_005077.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Val509Met",
"transcript": "NM_001303103.2",
"protein_id": "NP_001290032.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 780,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2832,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "NM_001303104.2",
"protein_id": "NP_001290033.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 755,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Val543Met",
"transcript": "XM_005252151.2",
"protein_id": "XP_005252208.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 814,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Met",
"transcript": "XM_005252152.2",
"protein_id": "XP_005252209.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 813,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2931,
"cdna_end": null,
"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Met",
"transcript": "XM_006717258.2",
"protein_id": "XP_006717321.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 813,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2931,
"cdna_end": null,
"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1597G>A",
"hgvs_p": "p.Val533Met",
"transcript": "XM_005252153.2",
"protein_id": "XP_005252210.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 804,
"cds_start": 1597,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1594G>A",
"hgvs_p": "p.Val532Met",
"transcript": "XM_005252154.2",
"protein_id": "XP_005252211.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 803,
"cds_start": 1594,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Val508Met",
"transcript": "XM_005252156.4",
"protein_id": "XP_005252213.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 779,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2829,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Met",
"transcript": "XM_006717262.2",
"protein_id": "XP_006717325.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 769,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2799,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Met",
"transcript": "XM_011518951.3",
"protein_id": "XP_011517253.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 769,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2799,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Val497Met",
"transcript": "XM_006717263.2",
"protein_id": "XP_006717326.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 768,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1459G>A",
"hgvs_p": "p.Val487Met",
"transcript": "XM_006717259.5",
"protein_id": "XP_006717322.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 758,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2766,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Val469Met",
"transcript": "XM_006717260.2",
"protein_id": "XP_006717323.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 740,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Val468Met",
"transcript": "XM_047423813.1",
"protein_id": "XP_047279769.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 739,
"cds_start": 1402,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2709,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Val459Met",
"transcript": "XM_005252162.2",
"protein_id": "XP_005252219.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 730,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Val458Met",
"transcript": "XM_047423814.1",
"protein_id": "XP_047279770.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 729,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Val435Met",
"transcript": "XM_047423815.1",
"protein_id": "XP_047279771.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 706,
"cds_start": 1303,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1300G>A",
"hgvs_p": "p.Val434Met",
"transcript": "XM_047423816.1",
"protein_id": "XP_047279772.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 705,
"cds_start": 1300,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2607,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Val428Met",
"transcript": "XM_006717261.3",
"protein_id": "XP_006717324.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 699,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Val425Met",
"transcript": "XM_005252163.3",
"protein_id": "XP_005252220.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 696,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Val424Met",
"transcript": "XM_047423817.1",
"protein_id": "XP_047279773.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 695,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2577,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Val347Met",
"transcript": "XM_047423818.1",
"protein_id": "XP_047279774.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 618,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"dbsnp": "rs776126837",
"frequency_reference_population": 0.000035313227,
"hom_count_reference_population": 1,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000342023,
"gnomad_genomes_af": 0.0000459818,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8653286695480347,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.535,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7965,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.903,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005077.5",
"gene_symbol": "TLE1",
"hgnc_id": 11837,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1495G>A",
"hgvs_p": "p.Val499Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}