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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-136207946-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136207946&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136207946,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000370683.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001159702.3",
"protein_id": "NP_001153174.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 323,
"cds_start": 486,
"cds_end": null,
"cds_length": 972,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": "ENST00000394155.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "ENST00000394155.8",
"protein_id": "ENSP00000377710.2",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 323,
"cds_start": 486,
"cds_end": null,
"cds_length": 972,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": "NM_001159702.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.534C>G",
"hgvs_p": "p.Cys178Trp",
"transcript": "NM_001159699.2",
"protein_id": "NP_001153171.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 296,
"cds_start": 534,
"cds_end": null,
"cds_length": 891,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": "ENST00000370683.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.534C>G",
"hgvs_p": "p.Cys178Trp",
"transcript": "ENST00000370683.6",
"protein_id": "ENSP00000359717.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 296,
"cds_start": 534,
"cds_end": null,
"cds_length": 891,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": "NM_001159699.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "ENST00000543669.5",
"protein_id": "ENSP00000443333.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.534C>G",
"hgvs_p": "p.Cys178Trp",
"transcript": "NM_001440769.1",
"protein_id": "NP_001427698.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 339,
"cds_start": 534,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001369326.1",
"protein_id": "NP_001356255.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 323,
"cds_start": 486,
"cds_end": null,
"cds_length": 972,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001369327.2",
"protein_id": "NP_001356256.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 323,
"cds_start": 486,
"cds_end": null,
"cds_length": 972,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001369328.1",
"protein_id": "NP_001356257.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 323,
"cds_start": 486,
"cds_end": null,
"cds_length": 972,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "ENST00000651089.1",
"protein_id": "ENSP00000498684.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 323,
"cds_start": 486,
"cds_end": null,
"cds_length": 972,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.573C>G",
"hgvs_p": "p.Cys191Trp",
"transcript": "NM_001159701.2",
"protein_id": "NP_001153173.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 309,
"cds_start": 573,
"cds_end": null,
"cds_length": 930,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.573C>G",
"hgvs_p": "p.Cys191Trp",
"transcript": "ENST00000539015.5",
"protein_id": "ENSP00000437673.1",
"transcript_support_level": 2,
"aa_start": 191,
"aa_end": null,
"aa_length": 309,
"cds_start": 573,
"cds_end": null,
"cds_length": 930,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001159700.2",
"protein_id": "NP_001153172.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
"cds_end": null,
"cds_length": 843,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001159704.1",
"protein_id": "NP_001153176.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001167819.1",
"protein_id": "NP_001161291.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
"cds_end": null,
"cds_length": 843,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001369329.1",
"protein_id": "NP_001356258.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
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"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001369330.1",
"protein_id": "NP_001356259.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
"cds_end": null,
"cds_length": 843,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001369331.1",
"protein_id": "NP_001356260.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
"cds_end": null,
"cds_length": 843,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "NM_001449.5",
"protein_id": "NP_001440.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
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"cdna_start": 682,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "ENST00000394153.6",
"protein_id": "ENSP00000377709.2",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
"cds_end": null,
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"cdna_start": 683,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "ENST00000535737.5",
"protein_id": "ENSP00000444815.1",
"transcript_support_level": 3,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
"cds_end": null,
"cds_length": 843,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
"transcript": "ENST00000628568.1",
"protein_id": "ENSP00000486782.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 280,
"cds_start": 486,
"cds_end": null,
"cds_length": 843,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"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.486C>G",
"hgvs_p": "p.Cys162Trp",
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"gene_symbol": "FHL1",
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"hgvs_c": "c.*28C>G",
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"transcript": "ENST00000627578.2",
"protein_id": "ENSP00000486436.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "FHL1",
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"hgvs_c": "c.*43C>G",
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"transcript": "ENST00000628443.2",
"protein_id": "ENSP00000486631.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
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"cds_length": 443,
"cdna_start": null,
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"cdna_length": 578,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.*63C>G",
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"transcript": "ENST00000449474.5",
"protein_id": "ENSP00000414604.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": -4,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"hgvs_c": "c.*71C>G",
"hgvs_p": null,
"transcript": "ENST00000627383.2",
"protein_id": "ENSP00000487318.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": -4,
"cds_end": null,
"cds_length": 415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FHL1",
"gene_hgnc_id": 3702,
"dbsnp": "rs377693754",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000884643,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9870882630348206,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.893,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.73,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.12,
"phylop100way_prediction": "Benign",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000370683.6",
"gene_symbol": "FHL1",
"hgnc_id": 3702,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.534C>G",
"hgvs_p": "p.Cys178Trp"
}
],
"clinvar_disease": "Cardiovascular phenotype,FHL1-related disorder,X-linked myopathy with postural muscle atrophy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "not provided|X-linked myopathy with postural muscle atrophy|Cardiovascular phenotype|FHL1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}