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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: 17-17224119-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17224119&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17224119,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000285071.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "NM_144997.7",
"protein_id": "NP_659434.2",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 579,
"cds_start": 421,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "ENST00000285071.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "ENST00000285071.9",
"protein_id": "ENSP00000285071.4",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 579,
"cds_start": 421,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "NM_144997.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "ENST00000389169.9",
"protein_id": "ENSP00000373821.5",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 342,
"cds_start": 421,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 876,
"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+3871A>G",
"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": "I",
"aa_alt": "V",
"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.475A>G",
"hgvs_p": "p.Ile159Val",
"transcript": "NM_001353229.2",
"protein_id": "NP_001340158.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 597,
"cds_start": 475,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "NM_001353230.2",
"protein_id": "NP_001340159.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 579,
"cds_start": 421,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "NM_001353231.2",
"protein_id": "NP_001340160.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 579,
"cds_start": 421,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "NM_144606.7",
"protein_id": "NP_653207.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 342,
"cds_start": 421,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.262A>G",
"hgvs_p": "p.Ile88Val",
"transcript": "ENST00000417064.1",
"protein_id": "ENSP00000410410.1",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 152,
"cds_start": 262,
"cds_end": null,
"cds_length": 459,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.475A>G",
"hgvs_p": "p.Ile159Val",
"transcript": "XM_011523714.4",
"protein_id": "XP_011522016.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 597,
"cds_start": 475,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.475A>G",
"hgvs_p": "p.Ile159Val",
"transcript": "XM_011523718.4",
"protein_id": "XP_011522020.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 597,
"cds_start": 475,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.475A>G",
"hgvs_p": "p.Ile159Val",
"transcript": "XM_011523721.4",
"protein_id": "XP_011522023.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 597,
"cds_start": 475,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.475A>G",
"hgvs_p": "p.Ile159Val",
"transcript": "XM_017024305.3",
"protein_id": "XP_016879794.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 597,
"cds_start": 475,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.475A>G",
"hgvs_p": "p.Ile159Val",
"transcript": "XM_047435531.1",
"protein_id": "XP_047291487.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 597,
"cds_start": 475,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"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.475A>G",
"hgvs_p": "p.Ile159Val",
"transcript": "XM_047435532.1",
"protein_id": "XP_047291488.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 597,
"cds_start": 475,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.475A>G",
"hgvs_p": "p.Ile159Val",
"transcript": "XM_047435533.1",
"protein_id": "XP_047291489.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
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"cds_start": 475,
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"cdna_start": 1827,
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"cdna_length": 4589,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.475A>G",
"hgvs_p": "p.Ile159Val",
"transcript": "XM_047435534.1",
"protein_id": "XP_047291490.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 597,
"cds_start": 475,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.475A>G",
"hgvs_p": "p.Ile159Val",
"transcript": "XM_047435539.1",
"protein_id": "XP_047291495.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 597,
"cds_start": 475,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "XM_017024308.2",
"protein_id": "XP_016879797.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 579,
"cds_start": 421,
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"cdna_start": 1312,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "XM_047435535.1",
"protein_id": "XP_047291491.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 579,
"cds_start": 421,
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"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "XM_047435536.1",
"protein_id": "XP_047291492.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 579,
"cds_start": 421,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "XM_047435537.1",
"protein_id": "XP_047291493.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 579,
"cds_start": 421,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.421A>G",
"hgvs_p": "p.Ile141Val",
"transcript": "XM_047435538.1",
"protein_id": "XP_047291494.1",
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},
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},
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}
],
"gene_symbol": "FLCN",
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"dbsnp": "rs375921200",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
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"gnomad_genomes_af": 0.00000656866,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32497698068618774,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.452,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.279,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.475,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000285071.9",
"gene_symbol": "FLCN",
"hgnc_id": 27310,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.421A>G",
"hgvs_p": "p.Ile141Val"
},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427497.3",
"gene_symbol": "ENSG00000264187",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.148+3871A>G",
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}
],
"clinvar_disease": "Birt-Hogg-Dube syndrome,Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Birt-Hogg-Dube syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}