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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: 17-17221580-A-TCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17221580&ref=A&alt=TCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17221580,
"ref": "A",
"alt": "TCT",
"effect": "frameshift_variant,synonymous_variant",
"transcript": "ENST00000285071.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "NM_144997.7",
"protein_id": "NP_659434.2",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "ENST00000285071.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000285071.9",
"protein_id": "ENSP00000285071.4",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "NM_144997.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000389169.9",
"protein_id": "ENSP00000373821.5",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 342,
"cds_start": 828,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"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.149-2526delTinsAGA",
"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": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "NM_001353229.2",
"protein_id": "NP_001340158.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "NM_001353230.2",
"protein_id": "NP_001340159.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "NM_001353231.2",
"protein_id": "NP_001340160.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "NM_144606.7",
"protein_id": "NP_653207.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 342,
"cds_start": 828,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "XM_011523714.4",
"protein_id": "XP_011522016.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "XM_011523718.4",
"protein_id": "XP_011522020.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "XM_011523721.4",
"protein_id": "XP_011522023.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "XM_017024305.3",
"protein_id": "XP_016879794.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "XM_047435531.1",
"protein_id": "XP_047291487.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "XM_047435532.1",
"protein_id": "XP_047291488.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 3035,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "XM_047435533.1",
"protein_id": "XP_047291489.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "XM_047435534.1",
"protein_id": "XP_047291490.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "XM_047435539.1",
"protein_id": "XP_047291495.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "XM_017024308.2",
"protein_id": "XP_016879797.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "XM_047435535.1",
"protein_id": "XP_047291491.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "XM_047435536.1",
"protein_id": "XP_047291492.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "XM_047435537.1",
"protein_id": "XP_047291493.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 2981,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "XM_047435538.1",
"protein_id": "XP_047291494.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
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},
{
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"synonymous_variant"
],
"exon_rank": 7,
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"protein_id": "XP_016879798.1",
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"aa_start": 202,
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"feature": null
},
{
"aa_ref": "G",
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"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
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"exon_count": 14,
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"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.606delTinsAGA",
"hgvs_p": "p.Ala203fs",
"transcript": "XM_047435540.1",
"protein_id": "XP_047291496.1",
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"aa_start": 202,
"aa_end": null,
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"cdna_start": 1298,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 6,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "FLCN",
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"hgvs_c": "c.606delTinsAGA",
"hgvs_p": "p.Ala203fs",
"transcript": "XM_047435541.1",
"protein_id": "XP_047291497.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 505,
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"cds_length": 1518,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "XM_047435542.1",
"protein_id": "XP_047291498.1",
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"aa_start": 294,
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"aa_length": 443,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "n.671delTinsAGA",
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"transcript": "ENST00000466317.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "n.*8delTinsAGA",
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"transcript": "ENST00000480316.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 786,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"dbsnp": "rs878855220",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.116,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000285071.9",
"gene_symbol": "FLCN",
"hgnc_id": 27310,
"effects": [
"frameshift_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427497.3",
"gene_symbol": "ENSG00000264187",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149-2526delTinsAGA",
"hgvs_p": null
}
],
"clinvar_disease": "Birt-Hogg-Dube syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Birt-Hogg-Dube syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}