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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: 3-55479499-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=55479499&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 55479499,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000264634.9",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Cys69Tyr",
"transcript": "NM_003392.7",
"protein_id": "NP_003383.4",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 380,
"cds_start": 206,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 5841,
"mane_select": "ENST00000264634.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Cys69Tyr",
"transcript": "ENST00000264634.9",
"protein_id": "ENSP00000264634.4",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 380,
"cds_start": 206,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 5841,
"mane_select": "NM_003392.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Cys69Tyr",
"transcript": "ENST00000474267.5",
"protein_id": "ENSP00000417310.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 380,
"cds_start": 206,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "NM_001256105.1",
"protein_id": "NP_001243034.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "NM_001377271.1",
"protein_id": "NP_001364200.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "NM_001377272.1",
"protein_id": "NP_001364201.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "ENST00000497027.5",
"protein_id": "ENSP00000420104.1",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "ENST00000482079.1",
"protein_id": "ENSP00000418184.1",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 213,
"cds_start": 161,
"cds_end": null,
"cds_length": 642,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Cys83Tyr",
"transcript": "XM_017007127.2",
"protein_id": "XP_016862616.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 394,
"cds_start": 248,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 5664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_011534086.3",
"protein_id": "XP_011532388.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 8095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_011534088.3",
"protein_id": "XP_011532390.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 6252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_011534089.2",
"protein_id": "XP_011532391.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 5753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_017007128.2",
"protein_id": "XP_016862617.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 8100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448852.1",
"protein_id": "XP_047304808.1",
"transcript_support_level": null,
"aa_start": 54,
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"aa_length": 365,
"cds_start": 161,
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"cdna_start": 309,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448853.1",
"protein_id": "XP_047304809.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 4483,
"cdna_end": null,
"cdna_length": 9797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448854.1",
"protein_id": "XP_047304810.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
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"cds_start": 161,
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"cdna_start": 4600,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448855.1",
"protein_id": "XP_047304811.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
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"cds_length": 1098,
"cdna_start": 4299,
"cdna_end": null,
"cdna_length": 9613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448856.1",
"protein_id": "XP_047304812.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 5744,
"cdna_end": null,
"cdna_length": 11058,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448857.1",
"protein_id": "XP_047304813.1",
"transcript_support_level": null,
"aa_start": 54,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448858.1",
"protein_id": "XP_047304814.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
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"cdna_start": 4082,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "C",
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"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": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448859.1",
"protein_id": "XP_047304815.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
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"cdna_start": 6057,
"cdna_end": null,
"cdna_length": 11371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448860.1",
"protein_id": "XP_047304816.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 5795,
"cdna_end": null,
"cdna_length": 11109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448861.1",
"protein_id": "XP_047304817.1",
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"aa_start": 54,
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"aa_length": 365,
"cds_start": 161,
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"cds_length": 1098,
"cdna_start": 5119,
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"cdna_length": 10433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Cys54Tyr",
"transcript": "XM_047448862.1",
"protein_id": "XP_047304818.1",
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"aa_start": 54,
"aa_end": null,
"aa_length": 365,
"cds_start": 161,
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"cds_length": 1098,
"cdna_start": 5114,
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"cdna_length": 10428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"hgvs_c": "n.202G>A",
"hgvs_p": null,
"transcript": "ENST00000497817.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WNT5A",
"gene_hgnc_id": 12784,
"dbsnp": "rs786204837",
"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": 0.9908767938613892,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.943,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.713,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000264634.9",
"gene_symbol": "WNT5A",
"hgnc_id": 12784,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Cys69Tyr"
}
],
"clinvar_disease": "Autosomal dominant Robinow syndrome 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1 O:1",
"phenotype_combined": "Autosomal dominant Robinow syndrome 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}