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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: 17-3688044-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=3688044&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 3688044,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002561.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Arg",
"transcript": "NM_002561.4",
"protein_id": "NP_002552.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 422,
"cds_start": 949,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225328.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002561.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Arg",
"transcript": "ENST00000225328.10",
"protein_id": "ENSP00000225328.5",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 422,
"cds_start": 949,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002561.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225328.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Arg",
"transcript": "ENST00000697413.1",
"protein_id": "ENSP00000513301.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 444,
"cds_start": 949,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697413.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Gly316Arg",
"transcript": "ENST00000547178.5",
"protein_id": "ENSP00000448355.1",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 421,
"cds_start": 946,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547178.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000551178.5",
"protein_id": "ENSP00000447545.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 397,
"cds_start": 874,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551178.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5-TAX1BP3",
"gene_hgnc_id": 49191,
"hgvs_c": "n.949G>A",
"hgvs_p": null,
"transcript": "ENST00000550383.1",
"protein_id": "ENSP00000455681.1",
"transcript_support_level": 2,
"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": "ENST00000550383.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Gly316Arg",
"transcript": "ENST00000552276.5",
"protein_id": "ENSP00000467707.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 431,
"cds_start": 946,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552276.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Gly316Arg",
"transcript": "NM_001204519.2",
"protein_id": "NP_001191448.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 421,
"cds_start": 946,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204519.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Gly316Arg",
"transcript": "ENST00000971449.1",
"protein_id": "ENSP00000641508.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 420,
"cds_start": 946,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971449.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Arg",
"transcript": "ENST00000971450.1",
"protein_id": "ENSP00000641509.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 405,
"cds_start": 898,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971450.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Gly293Arg",
"transcript": "NM_001204520.2",
"protein_id": "NP_001191449.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 398,
"cds_start": 877,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204520.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Gly293Arg",
"transcript": "ENST00000345901.7",
"protein_id": "ENSP00000342161.3",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 398,
"cds_start": 877,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345901.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Arg",
"transcript": "NM_175080.3",
"protein_id": "NP_778255.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 397,
"cds_start": 874,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175080.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Gly257Arg",
"transcript": "ENST00000552050.5",
"protein_id": "ENSP00000450006.1",
"transcript_support_level": 2,
"aa_start": 257,
"aa_end": null,
"aa_length": 362,
"cds_start": 769,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552050.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Gly219Arg",
"transcript": "ENST00000853234.1",
"protein_id": "ENSP00000523293.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 324,
"cds_start": 655,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853234.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Arg",
"transcript": "ENST00000971451.1",
"protein_id": "ENSP00000641510.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 307,
"cds_start": 604,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971451.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Arg",
"transcript": "ENST00000552723.1",
"protein_id": "ENSP00000449495.1",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 284,
"cds_start": 568,
"cds_end": null,
"cds_length": 857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552723.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Arg",
"transcript": "NM_001425082.1",
"protein_id": "NP_001412011.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 214,
"cds_start": 325,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425082.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Arg",
"transcript": "NM_001425083.1",
"protein_id": "NP_001412012.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 214,
"cds_start": 325,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425083.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Arg",
"transcript": "NM_001425084.1",
"protein_id": "NP_001412013.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 214,
"cds_start": 325,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425084.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Arg",
"transcript": "NM_001425085.1",
"protein_id": "NP_001412014.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 214,
"cds_start": 325,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425085.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "n.336G>A",
"hgvs_p": null,
"transcript": "ENST00000550772.1",
"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": "ENST00000550772.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5-TAX1BP3",
"gene_hgnc_id": 49191,
"hgvs_c": "n.1348G>A",
"hgvs_p": null,
"transcript": "NR_037928.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_037928.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"hgvs_c": "n.-6G>A",
"hgvs_p": null,
"transcript": "ENST00000552456.1",
"protein_id": "ENSP00000447815.1",
"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": "ENST00000552456.1"
}
],
"gene_symbol": "P2RX5",
"gene_hgnc_id": 8536,
"dbsnp": "rs764541647",
"frequency_reference_population": 0.0000031171332,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000274876,
"gnomad_genomes_af": 0.00000671889,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9841065406799316,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.775,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9856,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.525,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002561.4",
"gene_symbol": "P2RX5",
"hgnc_id": 8536,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000550383.1",
"gene_symbol": "P2RX5-TAX1BP3",
"hgnc_id": 49191,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.949G>A",
"hgvs_p": null
}
],
"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
}