← Back to variant description
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: 6-127985772-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=127985772&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 127985772,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001291981.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3200G>A",
"hgvs_p": "p.Arg1067Gln",
"transcript": "NM_002844.4",
"protein_id": "NP_002835.2",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3200,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368226.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002844.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3200G>A",
"hgvs_p": "p.Arg1067Gln",
"transcript": "ENST00000368226.9",
"protein_id": "ENSP00000357209.4",
"transcript_support_level": 1,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3200,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002844.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368226.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3266G>A",
"hgvs_p": "p.Arg1089Gln",
"transcript": "ENST00000532331.5",
"protein_id": "ENSP00000432973.1",
"transcript_support_level": 1,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1462,
"cds_start": 3266,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532331.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3218G>A",
"hgvs_p": "p.Arg1073Gln",
"transcript": "ENST00000368213.9",
"protein_id": "ENSP00000357196.5",
"transcript_support_level": 1,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3218,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368213.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Arg1066Gln",
"transcript": "ENST00000368215.7",
"protein_id": "ENSP00000357198.3",
"transcript_support_level": 1,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1439,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368215.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3338G>A",
"hgvs_p": "p.Arg1113Gln",
"transcript": "ENST00000950862.1",
"protein_id": "ENSP00000620921.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3338,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950862.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3332G>A",
"hgvs_p": "p.Arg1111Gln",
"transcript": "ENST00000876488.1",
"protein_id": "ENSP00000546547.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3332,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876488.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099Gln",
"transcript": "ENST00000368207.7",
"protein_id": "ENSP00000357190.3",
"transcript_support_level": 5,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3296,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368207.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099Gln",
"transcript": "ENST00000950864.1",
"protein_id": "ENSP00000620923.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3296,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950864.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098Gln",
"transcript": "ENST00000930832.1",
"protein_id": "ENSP00000600891.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1471,
"cds_start": 3293,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930832.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3275G>A",
"hgvs_p": "p.Arg1092Gln",
"transcript": "ENST00000950859.1",
"protein_id": "ENSP00000620918.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3275,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950859.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3266G>A",
"hgvs_p": "p.Arg1089Gln",
"transcript": "NM_001291981.2",
"protein_id": "NP_001278910.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1462,
"cds_start": 3266,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291981.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3254G>A",
"hgvs_p": "p.Arg1085Gln",
"transcript": "ENST00000368210.7",
"protein_id": "ENSP00000357193.3",
"transcript_support_level": 5,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1458,
"cds_start": 3254,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368210.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3251G>A",
"hgvs_p": "p.Arg1084Gln",
"transcript": "ENST00000950860.1",
"protein_id": "ENSP00000620919.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1457,
"cds_start": 3251,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950860.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3236G>A",
"hgvs_p": "p.Arg1079Gln",
"transcript": "ENST00000876487.1",
"protein_id": "ENSP00000546546.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3236,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876487.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3233G>A",
"hgvs_p": "p.Arg1078Gln",
"transcript": "ENST00000930833.1",
"protein_id": "ENSP00000600892.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3233,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930833.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3230G>A",
"hgvs_p": "p.Arg1077Gln",
"transcript": "ENST00000930831.1",
"protein_id": "ENSP00000600890.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930831.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3218G>A",
"hgvs_p": "p.Arg1073Gln",
"transcript": "NM_001135648.3",
"protein_id": "NP_001129120.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3218,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135648.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3215G>A",
"hgvs_p": "p.Arg1072Gln",
"transcript": "ENST00000950858.1",
"protein_id": "ENSP00000620917.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1445,
"cds_start": 3215,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950858.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Arg1066Gln",
"transcript": "NM_001291984.2",
"protein_id": "NP_001278913.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1439,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291984.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3173G>A",
"hgvs_p": "p.Arg1058Gln",
"transcript": "ENST00000950863.1",
"protein_id": "ENSP00000620922.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3173,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950863.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3077G>A",
"hgvs_p": "p.Arg1026Gln",
"transcript": "ENST00000876486.1",
"protein_id": "ENSP00000546545.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876486.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.3200G>A",
"hgvs_p": "p.Arg1067Gln",
"transcript": "ENST00000950861.1",
"protein_id": "ENSP00000620920.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3200,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950861.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"hgvs_c": "c.*49G>A",
"hgvs_p": null,
"transcript": "ENST00000415046.6",
"protein_id": "ENSP00000406825.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415046.6"
}
],
"gene_symbol": "PTPRK",
"gene_hgnc_id": 9674,
"dbsnp": "rs754548492",
"frequency_reference_population": 0.000019829615,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000212093,
"gnomad_genomes_af": 0.0000065735,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7045196294784546,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.65,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001291981.2",
"gene_symbol": "PTPRK",
"hgnc_id": 9674,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3266G>A",
"hgvs_p": "p.Arg1089Gln"
}
],
"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
}