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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: X-136207826-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136207826&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136207826,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000370683.6",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001159702.3",
"protein_id": "NP_001153174.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 323,
"cds_start": 366,
"cds_end": null,
"cds_length": 972,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": "ENST00000394155.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "ENST00000394155.8",
"protein_id": "ENSP00000377710.2",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 323,
"cds_start": 366,
"cds_end": null,
"cds_length": 972,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": "NM_001159702.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Trp138Cys",
"transcript": "NM_001159699.2",
"protein_id": "NP_001153171.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 296,
"cds_start": 414,
"cds_end": null,
"cds_length": 891,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": "ENST00000370683.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Trp138Cys",
"transcript": "ENST00000370683.6",
"protein_id": "ENSP00000359717.1",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 296,
"cds_start": 414,
"cds_end": null,
"cds_length": 891,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": "NM_001159699.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "ENST00000543669.5",
"protein_id": "ENSP00000443333.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 366,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Trp138Cys",
"transcript": "NM_001440769.1",
"protein_id": "NP_001427698.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 339,
"cds_start": 414,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001369326.1",
"protein_id": "NP_001356255.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 323,
"cds_start": 366,
"cds_end": null,
"cds_length": 972,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001369327.2",
"protein_id": "NP_001356256.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 323,
"cds_start": 366,
"cds_end": null,
"cds_length": 972,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001369328.1",
"protein_id": "NP_001356257.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 323,
"cds_start": 366,
"cds_end": null,
"cds_length": 972,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "ENST00000651089.1",
"protein_id": "ENSP00000498684.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 323,
"cds_start": 366,
"cds_end": null,
"cds_length": 972,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.453G>C",
"hgvs_p": "p.Trp151Cys",
"transcript": "NM_001159701.2",
"protein_id": "NP_001153173.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 309,
"cds_start": 453,
"cds_end": null,
"cds_length": 930,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.453G>C",
"hgvs_p": "p.Trp151Cys",
"transcript": "ENST00000539015.5",
"protein_id": "ENSP00000437673.1",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 309,
"cds_start": 453,
"cds_end": null,
"cds_length": 930,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001159700.2",
"protein_id": "NP_001153172.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 366,
"cds_end": null,
"cds_length": 843,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001159704.1",
"protein_id": "NP_001153176.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 366,
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"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001167819.1",
"protein_id": "NP_001161291.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 366,
"cds_end": null,
"cds_length": 843,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001369329.1",
"protein_id": "NP_001356258.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 366,
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"cdna_start": 693,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001369330.1",
"protein_id": "NP_001356259.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 366,
"cds_end": null,
"cds_length": 843,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001369331.1",
"protein_id": "NP_001356260.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 366,
"cds_end": null,
"cds_length": 843,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "NM_001449.5",
"protein_id": "NP_001440.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
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"cds_end": null,
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"cdna_start": 562,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "ENST00000394153.6",
"protein_id": "ENSP00000377709.2",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 366,
"cds_end": null,
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"cdna_start": 563,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "ENST00000535737.5",
"protein_id": "ENSP00000444815.1",
"transcript_support_level": 3,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 366,
"cds_end": null,
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"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
"transcript": "ENST00000628568.1",
"protein_id": "ENSP00000486782.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 280,
"cds_start": 366,
"cds_end": null,
"cds_length": 843,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.366G>C",
"hgvs_p": "p.Trp122Cys",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 4,
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"hgvs_c": "n.70G>C",
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"transcript": "ENST00000626004.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 5,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 7,
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"gene_symbol": "FHL1",
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"hgvs_c": "n.777G>C",
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"transcript": "NR_027621.2",
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},
{
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"consequences": [
"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "FHL1",
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"hgvs_c": "n.*165G>C",
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"transcript": "ENST00000477080.1",
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"cdna_length": 859,
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}
],
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"dbsnp": "rs1556639109",
"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": 0.9904747009277344,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.941,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9971,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.998,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000370683.6",
"gene_symbol": "FHL1",
"hgnc_id": 3702,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Trp138Cys"
}
],
"clinvar_disease": "X-linked myopathy with postural muscle atrophy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"phenotype_combined": "not provided|X-linked myopathy with postural muscle atrophy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}