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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: 17-17219138-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17219138&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17219138,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000285071.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Glu315Lys",
"transcript": "NM_144997.7",
"protein_id": "NP_659434.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 579,
"cds_start": 943,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "ENST00000285071.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"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": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Glu315Lys",
"transcript": "ENST00000285071.9",
"protein_id": "ENSP00000285071.4",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 579,
"cds_start": 943,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "NM_144997.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264187",
"gene_hgnc_id": null,
"hgvs_c": "n.149-84G>A",
"hgvs_p": null,
"transcript": "ENST00000427497.3",
"protein_id": "ENSP00000394249.3",
"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": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "NM_001353229.2",
"protein_id": "NP_001340158.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 597,
"cds_start": 997,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Glu315Lys",
"transcript": "NM_001353230.2",
"protein_id": "NP_001340159.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 579,
"cds_start": 943,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Glu315Lys",
"transcript": "NM_001353231.2",
"protein_id": "NP_001340160.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 579,
"cds_start": 943,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "XM_011523714.4",
"protein_id": "XP_011522016.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 597,
"cds_start": 997,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "XM_011523718.4",
"protein_id": "XP_011522020.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 597,
"cds_start": 997,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "XM_011523721.4",
"protein_id": "XP_011522023.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 597,
"cds_start": 997,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "XM_017024305.3",
"protein_id": "XP_016879794.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 597,
"cds_start": 997,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "XM_047435531.1",
"protein_id": "XP_047291487.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 597,
"cds_start": 997,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "XM_047435532.1",
"protein_id": "XP_047291488.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 597,
"cds_start": 997,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "XM_047435533.1",
"protein_id": "XP_047291489.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 597,
"cds_start": 997,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "XM_047435534.1",
"protein_id": "XP_047291490.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 597,
"cds_start": 997,
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"cdna_start": 2225,
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"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "XM_047435539.1",
"protein_id": "XP_047291495.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 597,
"cds_start": 997,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Glu315Lys",
"transcript": "XM_017024308.2",
"protein_id": "XP_016879797.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 579,
"cds_start": 943,
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"cdna_start": 1834,
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"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Glu315Lys",
"transcript": "XM_047435535.1",
"protein_id": "XP_047291491.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 579,
"cds_start": 943,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Glu315Lys",
"transcript": "XM_047435536.1",
"protein_id": "XP_047291492.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 579,
"cds_start": 943,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Glu315Lys",
"transcript": "XM_047435537.1",
"protein_id": "XP_047291493.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 579,
"cds_start": 943,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Glu315Lys",
"transcript": "XM_047435538.1",
"protein_id": "XP_047291494.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 579,
"cds_start": 943,
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"cdna_start": 1338,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Glu241Lys",
"transcript": "XM_017024309.3",
"protein_id": "XP_016879798.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 505,
"cds_start": 721,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Glu241Lys",
"transcript": "XM_047435540.1",
"protein_id": "XP_047291496.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 505,
"cds_start": 721,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Glu241Lys",
"transcript": "XM_047435541.1",
"protein_id": "XP_047291497.1",
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"aa_start": 241,
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"aa_length": 505,
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"cdna_start": 1116,
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"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
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"hgvs_c": "c.997G>A",
"hgvs_p": "p.Glu333Lys",
"transcript": "XM_047435542.1",
"protein_id": "XP_047291498.1",
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"aa_start": 333,
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"aa_length": 443,
"cds_start": 997,
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"cdna_start": 3150,
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"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
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"hgvs_c": "n.-35G>A",
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"transcript": "ENST00000577591.1",
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"transcript_support_level": 2,
"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": 296,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"dbsnp": "rs587781952",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20613178610801697,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.311,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0768,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.28,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000285071.9",
"gene_symbol": "FLCN",
"hgnc_id": 27310,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Glu315Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427497.3",
"gene_symbol": "ENSG00000264187",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149-84G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}