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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: 7-74521264-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74521264&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74521264,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000424337.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "NM_005685.4",
"protein_id": "NP_005676.3",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 944,
"cds_start": 973,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": "ENST00000424337.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "ENST00000424337.7",
"protein_id": "ENSP00000408477.2",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 944,
"cds_start": 973,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": "NM_005685.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "ENST00000455841.6",
"protein_id": "ENSP00000397566.2",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 976,
"cds_start": 1069,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "ENST00000476977.5",
"protein_id": "ENSP00000418383.1",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 960,
"cds_start": 973,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 2664,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "ENST00000265755.7",
"protein_id": "ENSP00000265755.3",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 959,
"cds_start": 973,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "NM_001199207.2",
"protein_id": "NP_001186136.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 976,
"cds_start": 1069,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "NM_001410888.1",
"protein_id": "NP_001397817.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 960,
"cds_start": 973,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "NM_016328.3",
"protein_id": "NP_057412.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 959,
"cds_start": 973,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "XM_047421056.1",
"protein_id": "XP_047277012.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1069,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 4298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "XM_047421057.1",
"protein_id": "XP_047277013.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 992,
"cds_start": 1069,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "XM_047421058.1",
"protein_id": "XP_047277014.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 991,
"cds_start": 1069,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "XM_047421059.1",
"protein_id": "XP_047277015.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 991,
"cds_start": 1069,
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"cds_length": 2976,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "XM_017012802.2",
"protein_id": "XP_016868291.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 975,
"cds_start": 973,
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"cds_length": 2928,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "XM_047421060.1",
"protein_id": "XP_047277016.1",
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"aa_start": 325,
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"cdna_start": 1113,
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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": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "XM_047421061.1",
"protein_id": "XP_047277017.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 973,
"cds_start": 1069,
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"cdna_start": 1346,
"cdna_end": null,
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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": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "XM_006716182.4",
"protein_id": "XP_006716245.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "XM_047421062.1",
"protein_id": "XP_047277018.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 959,
"cds_start": 973,
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"cdna_start": 1113,
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"cdna_length": 3192,
"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": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "XM_047421063.1",
"protein_id": "XP_047277019.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 959,
"cds_start": 973,
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"cdna_start": 1268,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "C",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "XM_047421064.1",
"protein_id": "XP_047277020.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "XM_017012804.2",
"protein_id": "XP_016868293.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "XM_047421065.1",
"protein_id": "XP_047277021.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
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"cds_start": 973,
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"cdna_start": 1152,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "XM_017012805.2",
"protein_id": "XP_016868294.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 941,
"cds_start": 973,
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"cdna_start": 1250,
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"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
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},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": true,
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],
"exon_rank": 7,
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"exon_count": 26,
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"gene_symbol": "GTF2IRD1",
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"transcript": "XM_011516713.2",
"protein_id": "XP_011515015.1",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 20,
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"gene_symbol": "GTF2IRD1",
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"hgvs_c": "n.979C>T",
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"transcript": "ENST00000489094.1",
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"transcript_support_level": 5,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 2274,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GTF2IRD1",
"gene_hgnc_id": 4661,
"dbsnp": "rs863223350",
"frequency_reference_population": 0.0000034267464,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342675,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7832295894622803,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.351,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9788,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.378,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000424337.7",
"gene_symbol": "GTF2IRD1",
"hgnc_id": 4661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys"
}
],
"clinvar_disease": "Childhood-onset schizophrenia",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Childhood-onset schizophrenia",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}