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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: 5-162149152-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=162149152&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 162149152,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198903.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "NM_198904.4",
"protein_id": "NP_944494.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 475,
"cds_start": 967,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000639213.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198904.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "ENST00000639213.2",
"protein_id": "ENSP00000491909.2",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 475,
"cds_start": 967,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198904.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639213.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp",
"transcript": "ENST00000414552.6",
"protein_id": "ENSP00000410732.2",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 515,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414552.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "ENST00000639111.2",
"protein_id": "ENSP00000492125.2",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 467,
"cds_start": 967,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639111.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp",
"transcript": "NM_198903.2",
"protein_id": "NP_944493.2",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 515,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198903.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp",
"transcript": "NM_001375343.1",
"protein_id": "NP_001362272.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 507,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375343.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp",
"transcript": "ENST00000361925.9",
"protein_id": "ENSP00000354651.5",
"transcript_support_level": 3,
"aa_start": 363,
"aa_end": null,
"aa_length": 507,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361925.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "ENST00000641017.1",
"protein_id": "ENSP00000493461.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 498,
"cds_start": 967,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641017.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1006C>T",
"hgvs_p": "p.Arg336Trp",
"transcript": "NM_001375344.1",
"protein_id": "NP_001362273.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 488,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375344.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "ENST00000356592.8",
"protein_id": "ENSP00000349000.4",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 475,
"cds_start": 967,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356592.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322Trp",
"transcript": "NM_001375341.1",
"protein_id": "NP_001362270.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 474,
"cds_start": 964,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375341.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322Trp",
"transcript": "ENST00000943443.1",
"protein_id": "ENSP00000613502.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 474,
"cds_start": 964,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943443.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320Trp",
"transcript": "NM_001375339.1",
"protein_id": "NP_001362268.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 472,
"cds_start": 958,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375339.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "NM_000816.3",
"protein_id": "NP_000807.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 467,
"cds_start": 967,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000816.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322Trp",
"transcript": "NM_001375342.1",
"protein_id": "NP_001362271.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 466,
"cds_start": 964,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375342.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"transcript": "NM_001375346.1",
"protein_id": "NP_001362275.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 453,
"cds_start": 901,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375346.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"transcript": "ENST00000639683.1",
"protein_id": "ENSP00000492581.1",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 453,
"cds_start": 901,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639683.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Arg294Trp",
"transcript": "NM_001375347.1",
"protein_id": "NP_001362276.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 446,
"cds_start": 880,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375347.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Arg294Trp",
"transcript": "ENST00000640985.1",
"protein_id": "ENSP00000492293.1",
"transcript_support_level": 5,
"aa_start": 294,
"aa_end": null,
"aa_length": 446,
"cds_start": 880,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640985.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"transcript": "NM_001375345.1",
"protein_id": "NP_001362274.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 445,
"cds_start": 901,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375345.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"transcript": "ENST00000639975.1",
"protein_id": "ENSP00000492096.1",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 445,
"cds_start": 901,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639975.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Trp",
"transcript": "ENST00000943444.1",
"protein_id": "ENSP00000613503.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 424,
"cds_start": 814,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "n.*167C>T",
"hgvs_p": null,
"transcript": "ENST00000639424.1",
"protein_id": "ENSP00000491245.1",
"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": "ENST00000639424.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "n.*320C>T",
"hgvs_p": null,
"transcript": "ENST00000640910.1",
"protein_id": "ENSP00000492545.1",
"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": "ENST00000640910.1"
}
],
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"dbsnp": "rs796052510",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9572800397872925,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.823,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"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": 22,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 22,
"benign_score": 0,
"pathogenic_score": 22,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_198903.2",
"gene_symbol": "GABRG2",
"hgnc_id": 4087,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp"
}
],
"clinvar_disease": " 2, 74, 8, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, familial,Developmental and epileptic encephalopathy,EPILEPSY,Febrile seizures,Intellectual disability,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2;Febrile seizures, familial, 8|Developmental and epileptic encephalopathy, 74;Febrile seizures, familial, 8|Intellectual disability|Febrile seizures, familial, 8|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}