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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: 9-81584467-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=81584467&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 81584467,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005077.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2186A>G",
"hgvs_p": "p.Tyr729Cys",
"transcript": "NM_005077.5",
"protein_id": "NP_005068.2",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 770,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": "ENST00000376499.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2186A>G",
"hgvs_p": "p.Tyr729Cys",
"transcript": "ENST00000376499.8",
"protein_id": "ENSP00000365682.3",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 770,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": "NM_005077.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Tyr739Cys",
"transcript": "NM_001303103.2",
"protein_id": "NP_001290032.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 780,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 3523,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2141A>G",
"hgvs_p": "p.Tyr714Cys",
"transcript": "NM_001303104.2",
"protein_id": "NP_001290033.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 755,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 3448,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2318A>G",
"hgvs_p": "p.Tyr773Cys",
"transcript": "XM_005252151.2",
"protein_id": "XP_005252208.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 814,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 3625,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2315A>G",
"hgvs_p": "p.Tyr772Cys",
"transcript": "XM_005252152.2",
"protein_id": "XP_005252209.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 813,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 3622,
"cdna_end": null,
"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2315A>G",
"hgvs_p": "p.Tyr772Cys",
"transcript": "XM_006717258.2",
"protein_id": "XP_006717321.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 813,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 3622,
"cdna_end": null,
"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Tyr763Cys",
"transcript": "XM_005252153.2",
"protein_id": "XP_005252210.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 804,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 3595,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2285A>G",
"hgvs_p": "p.Tyr762Cys",
"transcript": "XM_005252154.2",
"protein_id": "XP_005252211.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 803,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 3592,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Tyr738Cys",
"transcript": "XM_005252156.4",
"protein_id": "XP_005252213.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 779,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 3520,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2183A>G",
"hgvs_p": "p.Tyr728Cys",
"transcript": "XM_006717262.2",
"protein_id": "XP_006717325.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 769,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 3490,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2183A>G",
"hgvs_p": "p.Tyr728Cys",
"transcript": "XM_011518951.3",
"protein_id": "XP_011517253.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 769,
"cds_start": 2183,
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"cds_length": 2310,
"cdna_start": 3490,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2180A>G",
"hgvs_p": "p.Tyr727Cys",
"transcript": "XM_006717263.2",
"protein_id": "XP_006717326.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 768,
"cds_start": 2180,
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"cds_length": 2307,
"cdna_start": 3487,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Tyr717Cys",
"transcript": "XM_006717259.5",
"protein_id": "XP_006717322.1",
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"cdna_start": 3457,
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"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2096A>G",
"hgvs_p": "p.Tyr699Cys",
"transcript": "XM_006717260.2",
"protein_id": "XP_006717323.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 740,
"cds_start": 2096,
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"cdna_start": 3403,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2093A>G",
"hgvs_p": "p.Tyr698Cys",
"transcript": "XM_047423813.1",
"protein_id": "XP_047279769.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2066A>G",
"hgvs_p": "p.Tyr689Cys",
"transcript": "XM_005252162.2",
"protein_id": "XP_005252219.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 730,
"cds_start": 2066,
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"cdna_start": 3373,
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"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Tyr688Cys",
"transcript": "XM_047423814.1",
"protein_id": "XP_047279770.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 729,
"cds_start": 2063,
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"cdna_start": 3370,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1994A>G",
"hgvs_p": "p.Tyr665Cys",
"transcript": "XM_047423815.1",
"protein_id": "XP_047279771.1",
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"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1991A>G",
"hgvs_p": "p.Tyr664Cys",
"transcript": "XM_047423816.1",
"protein_id": "XP_047279772.1",
"transcript_support_level": null,
"aa_start": 664,
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"cds_start": 1991,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Tyr658Cys",
"transcript": "XM_006717261.3",
"protein_id": "XP_006717324.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 699,
"cds_start": 1973,
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"cds_length": 2100,
"cdna_start": 2178,
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"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1964A>G",
"hgvs_p": "p.Tyr655Cys",
"transcript": "XM_005252163.3",
"protein_id": "XP_005252220.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 696,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 3271,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1961A>G",
"hgvs_p": "p.Tyr654Cys",
"transcript": "XM_047423817.1",
"protein_id": "XP_047279773.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 695,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 3268,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1730A>G",
"hgvs_p": "p.Tyr577Cys",
"transcript": "XM_047423818.1",
"protein_id": "XP_047279774.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 618,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"dbsnp": "rs146295477",
"frequency_reference_population": 0.000014248721,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000129971,
"gnomad_genomes_af": 0.0000262619,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8188226819038391,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.45,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8921,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.017,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005077.5",
"gene_symbol": "TLE1",
"hgnc_id": 11837,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2186A>G",
"hgvs_p": "p.Tyr729Cys"
}
],
"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
}