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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: 10-50069652-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=50069652&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 50069652,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001005751.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "NM_001005751.3",
"protein_id": "NP_001005751.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1341,
"cds_start": 232,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282633.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005751.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000282633.10",
"protein_id": "ENSP00000282633.5",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 1341,
"cds_start": 232,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001005751.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282633.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000351071.11",
"protein_id": "ENSP00000344037.6",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 1320,
"cds_start": 232,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351071.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000314664.12",
"protein_id": "ENSP00000314417.7",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 1279,
"cds_start": 232,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314664.12"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000879370.1",
"protein_id": "ENSP00000549429.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1386,
"cds_start": 232,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879370.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000914883.1",
"protein_id": "ENSP00000584942.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1385,
"cds_start": 232,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914883.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000957573.1",
"protein_id": "ENSP00000627632.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1365,
"cds_start": 232,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957573.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000914887.1",
"protein_id": "ENSP00000584946.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1357,
"cds_start": 232,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914887.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000879371.1",
"protein_id": "ENSP00000549430.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1340,
"cds_start": 232,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879371.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000879372.1",
"protein_id": "ENSP00000549431.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1340,
"cds_start": 232,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879372.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000957558.1",
"protein_id": "ENSP00000627617.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1340,
"cds_start": 232,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957558.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000914886.1",
"protein_id": "ENSP00000584945.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1338,
"cds_start": 232,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914886.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000879365.1",
"protein_id": "ENSP00000549424.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1337,
"cds_start": 232,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879365.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000879367.1",
"protein_id": "ENSP00000549426.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1332,
"cds_start": 232,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879367.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000879366.1",
"protein_id": "ENSP00000549425.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1326,
"cds_start": 232,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879366.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000957587.1",
"protein_id": "ENSP00000627646.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1325,
"cds_start": 232,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957587.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000879369.1",
"protein_id": "ENSP00000549428.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1324,
"cds_start": 232,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879369.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000879359.1",
"protein_id": "ENSP00000549418.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1321,
"cds_start": 232,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879359.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "NM_001291398.2",
"protein_id": "NP_001278327.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1320,
"cds_start": 232,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291398.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000879368.1",
"protein_id": "ENSP00000549427.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1319,
"cds_start": 232,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879368.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys",
"transcript": "ENST00000957552.1",
"protein_id": "ENSP00000627611.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1319,
"cds_start": 232,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957552.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000957570.1",
"protein_id": "ENSP00000627629.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1319,
"cds_start": 166,
"cds_end": null,
"cds_length": 3960,
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.126+1425C>T",
"hgvs_p": null,
"transcript": "ENST00000957559.1",
"protein_id": "ENSP00000627618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1236,
"cds_start": null,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957559.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "c.126+1425C>T",
"hgvs_p": null,
"transcript": "ENST00000879354.1",
"protein_id": "ENSP00000549413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": null,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879354.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "n.232C>T",
"hgvs_p": null,
"transcript": "ENST00000434114.6",
"protein_id": "ENSP00000403781.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434114.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"hgvs_c": "n.143C>T",
"hgvs_p": null,
"transcript": "ENST00000492914.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000492914.1"
}
],
"gene_symbol": "WASHC2A",
"gene_hgnc_id": 23416,
"dbsnp": "rs782557264",
"frequency_reference_population": 0.000011772243,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000116308,
"gnomad_genomes_af": 0.0000131297,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3672211766242981,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.844,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1682,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.62,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001005751.3",
"gene_symbol": "WASHC2A",
"hgnc_id": 23416,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}