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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: 7-2543261-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2543261&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2543261,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000340611.9",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "NM_152743.4",
"protein_id": "NP_689956.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 821,
"cds_start": 866,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "ENST00000340611.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "ENST00000340611.9",
"protein_id": "ENSP00000339637.4",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 821,
"cds_start": 866,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "NM_152743.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "NM_001350626.2",
"protein_id": "NP_001337555.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 881,
"cds_start": 866,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.341G>C",
"hgvs_p": "p.Cys114Ser",
"transcript": "NM_001350627.2",
"protein_id": "NP_001337556.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 646,
"cds_start": 341,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "XM_011515177.3",
"protein_id": "XP_011513479.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 909,
"cds_start": 866,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "XM_011515178.2",
"protein_id": "XP_011513480.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 909,
"cds_start": 866,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.863G>C",
"hgvs_p": "p.Cys288Ser",
"transcript": "XM_011515179.3",
"protein_id": "XP_011513481.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 908,
"cds_start": 863,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.863G>C",
"hgvs_p": "p.Cys288Ser",
"transcript": "XM_047420028.1",
"protein_id": "XP_047275984.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 880,
"cds_start": 863,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "XM_011515181.3",
"protein_id": "XP_011513483.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 849,
"cds_start": 866,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.863G>C",
"hgvs_p": "p.Cys288Ser",
"transcript": "XM_017011834.2",
"protein_id": "XP_016867323.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 820,
"cds_start": 863,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.341G>C",
"hgvs_p": "p.Cys114Ser",
"transcript": "XM_011515184.4",
"protein_id": "XP_011513486.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 734,
"cds_start": 341,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.341G>C",
"hgvs_p": "p.Cys114Ser",
"transcript": "XM_047420030.1",
"protein_id": "XP_047275986.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 734,
"cds_start": 341,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.341G>C",
"hgvs_p": "p.Cys114Ser",
"transcript": "XM_047420031.1",
"protein_id": "XP_047275987.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 646,
"cds_start": 341,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "XM_011515186.3",
"protein_id": "XP_011513488.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 587,
"cds_start": 866,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.863G>C",
"hgvs_p": "p.Cys288Ser",
"transcript": "XM_047420032.1",
"protein_id": "XP_047275988.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 586,
"cds_start": 863,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "XM_017011836.3",
"protein_id": "XP_016867325.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 559,
"cds_start": 866,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.863G>C",
"hgvs_p": "p.Cys288Ser",
"transcript": "XM_047420033.1",
"protein_id": "XP_047275989.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 558,
"cds_start": 863,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "XM_047420034.1",
"protein_id": "XP_047275990.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 529,
"cds_start": 866,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "XM_047420035.1",
"protein_id": "XP_047275991.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 514,
"cds_start": 866,
"cds_end": null,
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"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser",
"transcript": "XM_047420036.1",
"protein_id": "XP_047275992.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 494,
"cds_start": 866,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.*211G>C",
"hgvs_p": null,
"transcript": "ENST00000421712.1",
"protein_id": "ENSP00000409209.2",
"transcript_support_level": 3,
"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": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.1148G>C",
"hgvs_p": null,
"transcript": "ENST00000467558.5",
"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": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.1356G>C",
"hgvs_p": null,
"transcript": "ENST00000469750.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.992G>C",
"hgvs_p": null,
"transcript": "ENST00000493232.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 5360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.925G>C",
"hgvs_p": null,
"transcript": "NR_146879.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.*211G>C",
"hgvs_p": null,
"transcript": "ENST00000421712.1",
"protein_id": "ENSP00000409209.2",
"transcript_support_level": 3,
"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": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"dbsnp": "rs140451075",
"frequency_reference_population": 0.008024934,
"hom_count_reference_population": 75,
"allele_count_reference_population": 12933,
"gnomad_exomes_af": 0.00824983,
"gnomad_genomes_af": 0.00586999,
"gnomad_exomes_ac": 12039,
"gnomad_genomes_ac": 894,
"gnomad_exomes_homalt": 71,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00796276330947876,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": 0.1053,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.991,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000340611.9",
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.866G>C",
"hgvs_p": "p.Cys289Ser"
}
],
"clinvar_disease": "Inborn genetic diseases,Intellectual disability,Neonatal-onset encephalopathy with rigidity and seizures,Neurodevelopmental disorder with cerebellar atrophy and with or without seizures,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:5 B:3",
"phenotype_combined": "not provided|Neonatal-onset encephalopathy with rigidity and seizures|Neonatal-onset encephalopathy with rigidity and seizures;Neurodevelopmental disorder with cerebellar atrophy and with or without seizures|Inborn genetic diseases|not specified|Intellectual disability",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}