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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: 10-126996851-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=126996851&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 126996851,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001290223.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001290223.2",
"protein_id": "NP_001277152.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1886,
"cds_start": 577,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": "ENST00000623213.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "ENST00000623213.2",
"protein_id": "ENSP00000485033.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 1886,
"cds_start": 577,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": "NM_001290223.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "ENST00000280333.9",
"protein_id": "ENSP00000280333.6",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 1865,
"cds_start": 577,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001377543.1",
"protein_id": "NP_001364472.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1919,
"cds_start": 577,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.613A>G",
"hgvs_p": "p.Lys205Glu",
"transcript": "NM_001377544.1",
"protein_id": "NP_001364473.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1877,
"cds_start": 613,
"cds_end": null,
"cds_length": 5634,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 6813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001380.5",
"protein_id": "NP_001371.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1865,
"cds_start": 577,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001377546.1",
"protein_id": "NP_001364475.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1846,
"cds_start": 577,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001377547.1",
"protein_id": "NP_001364476.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1844,
"cds_start": 577,
"cds_end": null,
"cds_length": 5535,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Lys165Glu",
"transcript": "NM_001377548.1",
"protein_id": "NP_001364477.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1837,
"cds_start": 493,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 6693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001377550.1",
"protein_id": "NP_001364479.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1832,
"cds_start": 577,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001377553.1",
"protein_id": "NP_001364482.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1825,
"cds_start": 577,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001377554.1",
"protein_id": "NP_001364483.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1814,
"cds_start": 577,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001377556.1",
"protein_id": "NP_001364485.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1800,
"cds_start": 577,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001377558.1",
"protein_id": "NP_001364487.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1796,
"cds_start": 577,
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"cdna_start": 667,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "NM_001377561.1",
"protein_id": "NP_001364490.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1046,
"cds_start": 577,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Lys215Glu",
"transcript": "XM_011539422.4",
"protein_id": "XP_011537724.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1908,
"cds_start": 643,
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"cdna_start": 672,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Lys215Glu",
"transcript": "XM_017015813.3",
"protein_id": "XP_016871302.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1887,
"cds_start": 643,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 1089,
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"cdna_length": 7199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.559A>G",
"hgvs_p": "p.Lys187Glu",
"transcript": "XM_011539424.2",
"protein_id": "XP_011537726.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1880,
"cds_start": 559,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Lys215Glu",
"transcript": "XM_017015814.2",
"protein_id": "XP_016871303.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
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"cdna_start": 658,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Lys215Glu",
"transcript": "XM_047424700.1",
"protein_id": "XP_047280656.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1047,
"cds_start": 643,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "XM_047424701.1",
"protein_id": "XP_047280657.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1025,
"cds_start": 577,
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"cdna_start": 667,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Lys215Glu",
"transcript": "XM_017015817.1",
"protein_id": "XP_016871306.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 972,
"cds_start": 643,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 6929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Lys215Glu",
"transcript": "XM_047424702.1",
"protein_id": "XP_047280658.1",
"transcript_support_level": null,
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"cds_start": 643,
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"cdna_start": 658,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
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"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu",
"transcript": "XM_047424703.1",
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"aa_start": 193,
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"aa_length": 950,
"cds_start": 577,
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"cds_length": 2853,
"cdna_start": 667,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
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"hgvs_c": "n.667A>G",
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"transcript": "XR_007061946.1",
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 44,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.131-11881A>G",
"hgvs_p": null,
"transcript": "NM_001377560.1",
"protein_id": "NP_001364489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1601,
"cds_start": -4,
"cds_end": null,
"cds_length": 4806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000223528",
"gene_hgnc_id": null,
"hgvs_c": "n.215+3425T>C",
"hgvs_p": null,
"transcript": "ENST00000627944.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"dbsnp": null,
"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": 0.44552522897720337,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.219,
"revel_prediction": "Benign",
"alphamissense_score": 0.167,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.841,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001290223.2",
"gene_symbol": "DOCK1",
"hgnc_id": 2987,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Lys193Glu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000627944.1",
"gene_symbol": "ENSG00000223528",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.215+3425T>C",
"hgvs_p": null
}
],
"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
}