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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: 17-7900706-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7900706&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7900706,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000330494.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2953C>T",
"hgvs_p": "p.Arg985Trp",
"transcript": "NM_001005273.3",
"protein_id": "NP_001005273.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 2000,
"cds_start": 2953,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": "ENST00000330494.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2953C>T",
"hgvs_p": "p.Arg985Trp",
"transcript": "ENST00000330494.12",
"protein_id": "ENSP00000332628.7",
"transcript_support_level": 1,
"aa_start": 985,
"aa_end": null,
"aa_length": 2000,
"cds_start": 2953,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": "NM_001005273.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2953C>T",
"hgvs_p": "p.Arg985Trp",
"transcript": "ENST00000358181.8",
"protein_id": "ENSP00000350907.4",
"transcript_support_level": 1,
"aa_start": 985,
"aa_end": null,
"aa_length": 1966,
"cds_start": 2953,
"cds_end": null,
"cds_length": 5901,
"cdna_start": 3163,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Arg1044Trp",
"transcript": "NM_001437504.1",
"protein_id": "NP_001424433.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 2114,
"cds_start": 3130,
"cds_end": null,
"cds_length": 6345,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 7407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Arg1044Trp",
"transcript": "ENST00000700753.1",
"protein_id": "ENSP00000515165.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 2114,
"cds_start": 3130,
"cds_end": null,
"cds_length": 6345,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 7388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Arg1044Trp",
"transcript": "NM_001005271.3",
"protein_id": "NP_001005271.2",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 2059,
"cds_start": 3130,
"cds_end": null,
"cds_length": 6180,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 7361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Arg1044Trp",
"transcript": "ENST00000380358.9",
"protein_id": "ENSP00000369716.4",
"transcript_support_level": 2,
"aa_start": 1044,
"aa_end": null,
"aa_length": 2059,
"cds_start": 3130,
"cds_end": null,
"cds_length": 6180,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 7361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3118C>T",
"hgvs_p": "p.Arg1040Trp",
"transcript": "NM_001437509.1",
"protein_id": "NP_001424438.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 2056,
"cds_start": 3118,
"cds_end": null,
"cds_length": 6171,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 7352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3118C>T",
"hgvs_p": "p.Arg1040Trp",
"transcript": "NM_001437507.1",
"protein_id": "NP_001424436.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 2055,
"cds_start": 3118,
"cds_end": null,
"cds_length": 6168,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 7349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3118C>T",
"hgvs_p": "p.Arg1040Trp",
"transcript": "NM_001437508.1",
"protein_id": "NP_001424437.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 2021,
"cds_start": 3118,
"cds_end": null,
"cds_length": 6066,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 7247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2953C>T",
"hgvs_p": "p.Arg985Trp",
"transcript": "NM_005852.4",
"protein_id": "NP_005843.2",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1966,
"cds_start": 2953,
"cds_end": null,
"cds_length": 5901,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2887C>T",
"hgvs_p": "p.Arg963Trp",
"transcript": "ENST00000672838.1",
"protein_id": "ENSP00000500734.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1356,
"cds_start": 2887,
"cds_end": null,
"cds_length": 4072,
"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Arg1044Trp",
"transcript": "XM_005256427.5",
"protein_id": "XP_005256484.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 2115,
"cds_start": 3130,
"cds_end": null,
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"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 7410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3118C>T",
"hgvs_p": "p.Arg1040Trp",
"transcript": "XM_006721424.4",
"protein_id": "XP_006721487.1",
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"cdna_start": 3129,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3118C>T",
"hgvs_p": "p.Arg1040Trp",
"transcript": "XM_047435190.1",
"protein_id": "XP_047291146.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 2110,
"cds_start": 3118,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 3129,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Arg1044Trp",
"transcript": "XM_005256428.5",
"protein_id": "XP_005256485.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3118C>T",
"hgvs_p": "p.Arg1040Trp",
"transcript": "XM_047435191.1",
"protein_id": "XP_047291147.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 2076,
"cds_start": 3118,
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"cdna_start": 3129,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Arg1044Trp",
"transcript": "XM_005256429.5",
"protein_id": "XP_005256486.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 2060,
"cds_start": 3130,
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"cdna_start": 3141,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "W",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2953C>T",
"hgvs_p": "p.Arg985Trp",
"transcript": "XM_017024063.2",
"protein_id": "XP_016879552.1",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2953C>T",
"hgvs_p": "p.Arg985Trp",
"transcript": "XM_047435193.1",
"protein_id": "XP_047291149.1",
"transcript_support_level": null,
"aa_start": 985,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2941C>T",
"hgvs_p": "p.Arg981Trp",
"transcript": "XM_047435194.1",
"protein_id": "XP_047291150.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 2052,
"cds_start": 2941,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2941C>T",
"hgvs_p": "p.Arg981Trp",
"transcript": "XM_047435195.1",
"protein_id": "XP_047291151.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 2051,
"cds_start": 2941,
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"cdna_start": 3153,
"cdna_end": null,
"cdna_length": 7419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
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"cds_length": 5829,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 7160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2449C>T",
"hgvs_p": "p.Arg817Trp",
"transcript": "XM_017024069.2",
"protein_id": "XP_016879558.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 1888,
"cds_start": 2449,
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"cds_length": 5667,
"cdna_start": 2942,
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"cdna_length": 7211,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.2449C>T",
"hgvs_p": "p.Arg817Trp",
"transcript": "XM_047435216.1",
"protein_id": "XP_047291172.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 1888,
"cds_start": 2449,
"cds_end": null,
"cds_length": 5667,
"cdna_start": 3001,
"cdna_end": null,
"cdna_length": 7270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Arg1044Trp",
"transcript": "XM_005256431.5",
"protein_id": "XP_005256488.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1185,
"cds_start": 3130,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHD3",
"gene_hgnc_id": 1918,
"dbsnp": "rs1555611722",
"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": 0.8393779993057251,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.645,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9929,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.252,
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM2",
"PM5",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000330494.12",
"gene_symbol": "CHD3",
"hgnc_id": 1918,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2953C>T",
"hgvs_p": "p.Arg985Trp"
}
],
"clinvar_disease": "Inborn genetic diseases,Intellectual disability,Snijders Blok-Campeau syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:2",
"phenotype_combined": "Inborn genetic diseases|Intellectual disability|Snijders Blok-Campeau syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}