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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: 14-67584062-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67584062&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67584062,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020715.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3637C>T",
"hgvs_p": "p.Arg1213Cys",
"transcript": "NM_020715.3",
"protein_id": "NP_065766.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3637,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329153.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020715.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3637C>T",
"hgvs_p": "p.Arg1213Cys",
"transcript": "ENST00000329153.10",
"protein_id": "ENSP00000330278.5",
"transcript_support_level": 1,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3637,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020715.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329153.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "n.2892C>T",
"hgvs_p": null,
"transcript": "ENST00000557971.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000557971.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "n.836C>T",
"hgvs_p": null,
"transcript": "ENST00000559981.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000559981.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3625C>T",
"hgvs_p": "p.Arg1209Cys",
"transcript": "ENST00000870159.1",
"protein_id": "ENSP00000540218.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3625,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870159.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3574C>T",
"hgvs_p": "p.Arg1192Cys",
"transcript": "ENST00000870157.1",
"protein_id": "ENSP00000540216.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3574,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870157.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3487C>T",
"hgvs_p": "p.Arg1163Cys",
"transcript": "ENST00000931409.1",
"protein_id": "ENSP00000601468.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3487,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931409.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.2800C>T",
"hgvs_p": "p.Arg934Cys",
"transcript": "ENST00000870158.1",
"protein_id": "ENSP00000540217.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2800,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870158.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3721C>T",
"hgvs_p": "p.Arg1241Cys",
"transcript": "XM_011537009.2",
"protein_id": "XP_011535311.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3721,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537009.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3658C>T",
"hgvs_p": "p.Arg1220Cys",
"transcript": "XM_017021499.2",
"protein_id": "XP_016876988.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3658,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021499.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3637C>T",
"hgvs_p": "p.Arg1213Cys",
"transcript": "XM_017021500.2",
"protein_id": "XP_016876989.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3637,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021500.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3574C>T",
"hgvs_p": "p.Arg1192Cys",
"transcript": "XM_017021501.2",
"protein_id": "XP_016876990.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3574,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021501.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3721C>T",
"hgvs_p": "p.Arg1241Cys",
"transcript": "XM_047431619.1",
"protein_id": "XP_047287575.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3721,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431619.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.3553C>T",
"hgvs_p": "p.Arg1185Cys",
"transcript": "XM_047431620.1",
"protein_id": "XP_047287576.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3553,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431620.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.2401C>T",
"hgvs_p": "p.Arg801Cys",
"transcript": "XM_017021502.2",
"protein_id": "XP_016876991.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 952,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021502.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.Arg773Cys",
"transcript": "XM_047431621.1",
"protein_id": "XP_047287577.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 924,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431621.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Arg768Cys",
"transcript": "XM_011537015.3",
"protein_id": "XP_011535317.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 919,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537015.3"
},
{
"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": "PIGH",
"gene_hgnc_id": 8964,
"hgvs_c": "c.439-1788G>A",
"hgvs_p": null,
"transcript": "ENST00000561272.5",
"protein_id": "ENSP00000453759.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561272.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1313-151133C>T",
"hgvs_p": null,
"transcript": "XM_047430879.1",
"protein_id": "XP_047286835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "n.497C>T",
"hgvs_p": null,
"transcript": "ENST00000558366.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000558366.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "n.2479C>T",
"hgvs_p": null,
"transcript": "ENST00000558386.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000558386.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "n.*273C>T",
"hgvs_p": null,
"transcript": "ENST00000561370.5",
"protein_id": "ENSP00000452988.1",
"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": "ENST00000561370.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "n.*273C>T",
"hgvs_p": null,
"transcript": "ENST00000561370.5",
"protein_id": "ENSP00000452988.1",
"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": "ENST00000561370.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"hgvs_c": "n.-51C>T",
"hgvs_p": null,
"transcript": "ENST00000561057.1",
"protein_id": "ENSP00000453343.1",
"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": "ENST00000561057.1"
}
],
"gene_symbol": "PLEKHH1",
"gene_hgnc_id": 17733,
"dbsnp": "rs777848891",
"frequency_reference_population": 0.00001549083,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000143671,
"gnomad_genomes_af": 0.0000262833,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8603037595748901,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.657,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1635,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.644,
"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": 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_020715.3",
"gene_symbol": "PLEKHH1",
"hgnc_id": 17733,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3637C>T",
"hgvs_p": "p.Arg1213Cys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000561272.5",
"gene_symbol": "PIGH",
"hgnc_id": 8964,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.439-1788G>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_047430879.1",
"gene_symbol": "GPHN",
"hgnc_id": 15465,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1313-151133C>T",
"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
}