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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: X-49075246-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49075246&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49075246,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000376372.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Gly288Val",
"transcript": "NM_001029896.2",
"protein_id": "NP_001025067.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 360,
"cds_start": 863,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "ENST00000376372.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Gly288Val",
"transcript": "ENST00000376372.9",
"protein_id": "ENSP00000365551.3",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 360,
"cds_start": 863,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "NM_001029896.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.866G>T",
"hgvs_p": "p.Gly289Val",
"transcript": "ENST00000356463.7",
"protein_id": "ENSP00000348848.3",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 361,
"cds_start": 866,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.866G>T",
"hgvs_p": "p.Gly289Val",
"transcript": "ENST00000376368.7",
"protein_id": "ENSP00000365546.2",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 361,
"cds_start": 866,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288053",
"gene_hgnc_id": null,
"hgvs_c": "c.521+118G>T",
"hgvs_p": null,
"transcript": "ENST00000376358.4",
"protein_id": "ENSP00000365536.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.896G>T",
"hgvs_p": "p.Gly299Val",
"transcript": "ENST00000322995.13",
"protein_id": "ENSP00000365543.5",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 371,
"cds_start": 896,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.866G>T",
"hgvs_p": "p.Gly289Val",
"transcript": "NM_007075.4",
"protein_id": "NP_009006.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 361,
"cds_start": 866,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Gly288Val",
"transcript": "ENST00000634944.1",
"protein_id": "ENSP00000488972.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 360,
"cds_start": 863,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.821G>T",
"hgvs_p": "p.Gly274Val",
"transcript": "ENST00000634838.1",
"protein_id": "ENSP00000489268.1",
"transcript_support_level": 5,
"aa_start": 274,
"aa_end": null,
"aa_length": 346,
"cds_start": 821,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.758G>T",
"hgvs_p": "p.Gly253Val",
"transcript": "ENST00000485908.6",
"protein_id": "ENSP00000419897.1",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 325,
"cds_start": 758,
"cds_end": null,
"cds_length": 978,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.746G>T",
"hgvs_p": "p.Gly249Val",
"transcript": "ENST00000396681.9",
"protein_id": "ENSP00000379913.5",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 321,
"cds_start": 746,
"cds_end": null,
"cds_length": 966,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.662G>T",
"hgvs_p": "p.Gly221Val",
"transcript": "ENST00000635003.1",
"protein_id": "ENSP00000489080.1",
"transcript_support_level": 3,
"aa_start": 221,
"aa_end": null,
"aa_length": 293,
"cds_start": 662,
"cds_end": null,
"cds_length": 882,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.650G>T",
"hgvs_p": "p.Gly217Val",
"transcript": "ENST00000634559.1",
"protein_id": "ENSP00000488986.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 289,
"cds_start": 650,
"cds_end": null,
"cds_length": 870,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.641G>T",
"hgvs_p": "p.Gly214Val",
"transcript": "ENST00000367375.8",
"protein_id": "ENSP00000356345.4",
"transcript_support_level": 5,
"aa_start": 214,
"aa_end": null,
"aa_length": 286,
"cds_start": 641,
"cds_end": null,
"cds_length": 861,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.803G>T",
"hgvs_p": "p.Gly268Val",
"transcript": "ENST00000635666.1",
"protein_id": "ENSP00000489128.1",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 275,
"cds_start": 803,
"cds_end": null,
"cds_length": 830,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.557G>T",
"hgvs_p": "p.Gly186Val",
"transcript": "ENST00000634736.1",
"protein_id": "ENSP00000489561.1",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 195,
"cds_start": 557,
"cds_end": null,
"cds_length": 590,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "ENST00000486337.6",
"protein_id": "ENSP00000419453.2",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 85,
"cds_start": 50,
"cds_end": null,
"cds_length": 258,
"cdna_start": 51,
"cdna_end": null,
"cdna_length": 422,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.519G>T",
"hgvs_p": null,
"transcript": "ENST00000433252.7",
"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": 1096,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.2020G>T",
"hgvs_p": null,
"transcript": "ENST00000465806.6",
"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": 2610,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.560G>T",
"hgvs_p": null,
"transcript": "ENST00000634852.1",
"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": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.725+299G>T",
"hgvs_p": null,
"transcript": "ENST00000473974.5",
"protein_id": "ENSP00000417211.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.323+118G>T",
"hgvs_p": null,
"transcript": "ENST00000475977.2",
"protein_id": "ENSP00000417754.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": -4,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.*118G>T",
"hgvs_p": null,
"transcript": "ENST00000475880.6",
"protein_id": "ENSP00000418919.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.*113G>T",
"hgvs_p": null,
"transcript": "ENST00000480412.2",
"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": 437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.*596G>T",
"hgvs_p": null,
"transcript": "ENST00000635344.1",
"protein_id": "ENSP00000489553.1",
"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": 737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"dbsnp": "rs797046104",
"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": 0.8313508033752441,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4000000059604645,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.707,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9582,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.256,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.4,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000376372.9",
"gene_symbol": "WDR45",
"hgnc_id": 28912,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.863G>T",
"hgvs_p": "p.Gly288Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000376358.4",
"gene_symbol": "ENSG00000288053",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.521+118G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Neurodegeneration with brain iron accumulation 5,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Neurodegeneration with brain iron accumulation 5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}