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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: 17-17223936-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17223936&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17223936,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000285071.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "NM_144997.7",
"protein_id": "NP_659434.2",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 579,
"cds_start": 604,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "ENST00000285071.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "ENST00000285071.9",
"protein_id": "ENSP00000285071.4",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 579,
"cds_start": 604,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "NM_144997.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "ENST00000389169.9",
"protein_id": "ENSP00000373821.5",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 342,
"cds_start": 604,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1059,
"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.148+4054G>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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "NM_001353229.2",
"protein_id": "NP_001340158.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 597,
"cds_start": 658,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "NM_001353230.2",
"protein_id": "NP_001340159.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 579,
"cds_start": 604,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "NM_001353231.2",
"protein_id": "NP_001340160.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 579,
"cds_start": 604,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "NM_144606.7",
"protein_id": "NP_653207.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 342,
"cds_start": 604,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Ser",
"transcript": "ENST00000417064.1",
"protein_id": "ENSP00000410410.1",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 152,
"cds_start": 445,
"cds_end": null,
"cds_length": 459,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "XM_011523714.4",
"protein_id": "XP_011522016.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 597,
"cds_start": 658,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "XM_011523718.4",
"protein_id": "XP_011522020.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 597,
"cds_start": 658,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "XM_011523721.4",
"protein_id": "XP_011522023.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 597,
"cds_start": 658,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "XM_017024305.3",
"protein_id": "XP_016879794.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 597,
"cds_start": 658,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "XM_047435531.1",
"protein_id": "XP_047291487.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 597,
"cds_start": 658,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "XM_047435532.1",
"protein_id": "XP_047291488.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 597,
"cds_start": 658,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "XM_047435533.1",
"protein_id": "XP_047291489.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 597,
"cds_start": 658,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "XM_047435534.1",
"protein_id": "XP_047291490.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 597,
"cds_start": 658,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "XM_047435539.1",
"protein_id": "XP_047291495.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 597,
"cds_start": 658,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "XM_017024308.2",
"protein_id": "XP_016879797.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 579,
"cds_start": 604,
"cds_end": null,
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"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "XM_047435535.1",
"protein_id": "XP_047291491.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 579,
"cds_start": 604,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "XM_047435536.1",
"protein_id": "XP_047291492.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 579,
"cds_start": 604,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "XM_047435537.1",
"protein_id": "XP_047291493.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 579,
"cds_start": 604,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"transcript": "XM_047435538.1",
"protein_id": "XP_047291494.1",
"transcript_support_level": null,
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}
],
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"computational_score_selected": 0.05311492085456848,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.275,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000285071.9",
"gene_symbol": "FLCN",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Gly202Ser"
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{
"score": -3,
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"criteria": [
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"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000427497.3",
"gene_symbol": "ENSG00000264187",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.148+4054G>A",
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}
],
"clinvar_disease": "17p11.2 microduplication syndrome,Birt-Hogg-Dube syndrome,Birt-Hogg-Dube syndrome 1,Colorectal cancer,Familial spontaneous pneumothorax,Hereditary cancer-predisposing syndrome,Nonpapillary renal cell carcinoma",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "Birt-Hogg-Dube syndrome|Hereditary cancer-predisposing syndrome|Birt-Hogg-Dube syndrome;Colorectal cancer;Nonpapillary renal cell carcinoma;17p11.2 microduplication syndrome;Familial spontaneous pneumothorax|Birt-Hogg-Dube syndrome 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}