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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: 1-91977379-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=91977379&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 91977379,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001242806.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "NM_207189.4",
"protein_id": "NP_997072.2",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399546.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207189.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "ENST00000399546.7",
"protein_id": "ENSP00000387822.3",
"transcript_support_level": 2,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207189.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399546.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "ENST00000362005.7",
"protein_id": "ENSP00000354568.3",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362005.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "ENST00000402388.1",
"protein_id": "ENSP00000384051.1",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402388.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.736C>A",
"hgvs_p": "p.Leu246Ile",
"transcript": "ENST00000370389.6",
"protein_id": "ENSP00000359416.2",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 874,
"cds_start": 736,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370389.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "ENST00000426141.6",
"protein_id": "ENSP00000404969.1",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 461,
"cds_start": 955,
"cds_end": null,
"cds_length": 1388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426141.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.967C>A",
"hgvs_p": "p.Leu323Ile",
"transcript": "NM_001242806.2",
"protein_id": "NP_001229735.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 951,
"cds_start": 967,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242806.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "NM_001242805.2",
"protein_id": "NP_001229734.2",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242805.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "NM_001726.4",
"protein_id": "NP_001717.3",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001726.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.817C>A",
"hgvs_p": "p.Leu273Ile",
"transcript": "NM_001242807.2",
"protein_id": "NP_001229736.2",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 901,
"cds_start": 817,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242807.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.817C>A",
"hgvs_p": "p.Leu273Ile",
"transcript": "NM_001242808.2",
"protein_id": "NP_001229737.2",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 901,
"cds_start": 817,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242808.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.817C>A",
"hgvs_p": "p.Leu273Ile",
"transcript": "ENST00000394530.7",
"protein_id": "ENSP00000378038.3",
"transcript_support_level": 2,
"aa_start": 273,
"aa_end": null,
"aa_length": 901,
"cds_start": 817,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394530.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.736C>A",
"hgvs_p": "p.Leu246Ile",
"transcript": "NM_001242810.2",
"protein_id": "NP_001229739.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 874,
"cds_start": 736,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242810.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.997C>A",
"hgvs_p": "p.Leu333Ile",
"transcript": "ENST00000680091.1",
"protein_id": "ENSP00000506227.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 474,
"cds_start": 997,
"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": "ENST00000680091.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.604C>A",
"hgvs_p": "p.Leu202Ile",
"transcript": "ENST00000680541.1",
"protein_id": "ENSP00000505035.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 344,
"cds_start": 604,
"cds_end": null,
"cds_length": 1037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680541.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "XM_006710855.5",
"protein_id": "XP_006710918.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710855.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "XM_006710856.5",
"protein_id": "XP_006710919.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710856.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "XM_011542032.4",
"protein_id": "XP_011540334.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542032.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "XM_011542034.4",
"protein_id": "XP_011540336.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542034.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "XM_011542035.4",
"protein_id": "XP_011540337.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542035.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "XM_011542036.4",
"protein_id": "XP_011540338.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542036.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "XM_047428949.1",
"protein_id": "XP_047284905.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428949.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "XM_047428955.1",
"protein_id": "XP_047284911.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428955.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.955C>A",
"hgvs_p": "p.Leu319Ile",
"transcript": "XM_047428967.1",
"protein_id": "XP_047284923.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 947,
"cds_start": 955,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428967.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "n.299C>A",
"hgvs_p": null,
"transcript": "ENST00000484781.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000484781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.*241C>A",
"hgvs_p": null,
"transcript": "ENST00000448194.6",
"protein_id": "ENSP00000410587.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448194.6"
}
],
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"dbsnp": null,
"frequency_reference_population": 6.9943275e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.99433e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8461545705795288,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.329,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3048,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.895,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001242806.2",
"gene_symbol": "BRDT",
"hgnc_id": 1105,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.967C>A",
"hgvs_p": "p.Leu323Ile"
}
],
"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
}