← 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: 19-48839233-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48839233&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48839233,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001438306.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1936T>C",
"hgvs_p": "p.Trp646Arg",
"transcript": "NM_020904.3",
"protein_id": "NP_065955.2",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 779,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263265.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020904.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1936T>C",
"hgvs_p": "p.Trp646Arg",
"transcript": "ENST00000263265.11",
"protein_id": "ENSP00000263265.5",
"transcript_support_level": 1,
"aa_start": 646,
"aa_end": null,
"aa_length": 779,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020904.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263265.11"
},
{
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1669-1104T>C",
"hgvs_p": null,
"transcript": "ENST00000355496.9",
"protein_id": "ENSP00000347683.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355496.9"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1957T>C",
"hgvs_p": "p.Trp653Arg",
"transcript": "ENST00000882972.1",
"protein_id": "ENSP00000553031.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 786,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882972.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1948T>C",
"hgvs_p": "p.Trp650Arg",
"transcript": "NM_001438306.1",
"protein_id": "NP_001425235.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 783,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438306.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1948T>C",
"hgvs_p": "p.Trp650Arg",
"transcript": "ENST00000882967.1",
"protein_id": "ENSP00000553026.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 783,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882967.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1936T>C",
"hgvs_p": "p.Trp646Arg",
"transcript": "ENST00000882976.1",
"protein_id": "ENSP00000553035.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 779,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882976.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1933T>C",
"hgvs_p": "p.Trp645Arg",
"transcript": "ENST00000882977.1",
"protein_id": "ENSP00000553036.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 778,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882977.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1933T>C",
"hgvs_p": "p.Trp645Arg",
"transcript": "ENST00000956196.1",
"protein_id": "ENSP00000626255.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 778,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956196.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1882T>C",
"hgvs_p": "p.Trp628Arg",
"transcript": "ENST00000882973.1",
"protein_id": "ENSP00000553032.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 761,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882973.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1861T>C",
"hgvs_p": "p.Trp621Arg",
"transcript": "NM_001438307.1",
"protein_id": "NP_001425236.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 754,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438307.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1861T>C",
"hgvs_p": "p.Trp621Arg",
"transcript": "ENST00000882966.1",
"protein_id": "ENSP00000553025.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 754,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882966.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1861T>C",
"hgvs_p": "p.Trp621Arg",
"transcript": "ENST00000956197.1",
"protein_id": "ENSP00000626256.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 754,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956197.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1858T>C",
"hgvs_p": "p.Trp620Arg",
"transcript": "ENST00000882969.1",
"protein_id": "ENSP00000553028.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 753,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882969.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1840T>C",
"hgvs_p": "p.Trp614Arg",
"transcript": "ENST00000594100.2",
"protein_id": "ENSP00000471274.2",
"transcript_support_level": 3,
"aa_start": 614,
"aa_end": null,
"aa_length": 747,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594100.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1828T>C",
"hgvs_p": "p.Trp610Arg",
"transcript": "NM_001438308.1",
"protein_id": "NP_001425237.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 743,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438308.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1828T>C",
"hgvs_p": "p.Trp610Arg",
"transcript": "ENST00000882968.1",
"protein_id": "ENSP00000553027.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 743,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882968.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1825T>C",
"hgvs_p": "p.Trp609Arg",
"transcript": "ENST00000956195.1",
"protein_id": "ENSP00000626254.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 742,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956195.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1762T>C",
"hgvs_p": "p.Trp588Arg",
"transcript": "ENST00000882980.1",
"protein_id": "ENSP00000553039.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 721,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882980.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1759T>C",
"hgvs_p": "p.Trp587Arg",
"transcript": "ENST00000882975.1",
"protein_id": "ENSP00000553034.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 720,
"cds_start": 1759,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882975.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Trp585Arg",
"transcript": "ENST00000882978.1",
"protein_id": "ENSP00000553037.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 718,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882978.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1732T>C",
"hgvs_p": "p.Trp578Arg",
"transcript": "ENST00000882979.1",
"protein_id": "ENSP00000553038.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 711,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882979.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1657T>C",
"hgvs_p": "p.Trp553Arg",
"transcript": "ENST00000882971.1",
"protein_id": "ENSP00000553030.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 686,
"cds_start": 1657,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882971.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1645T>C",
"hgvs_p": "p.Trp549Arg",
"transcript": "ENST00000882970.1",
"protein_id": "ENSP00000553029.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 682,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882970.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1579T>C",
"hgvs_p": "p.Trp527Arg",
"transcript": "ENST00000882974.1",
"protein_id": "ENSP00000553033.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 660,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882974.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1255T>C",
"hgvs_p": "p.Trp419Arg",
"transcript": "ENST00000956198.1",
"protein_id": "ENSP00000626257.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 552,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956198.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1081T>C",
"hgvs_p": "p.Trp361Arg",
"transcript": "ENST00000882981.1",
"protein_id": "ENSP00000553040.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 494,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882981.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1840T>C",
"hgvs_p": "p.Trp614Arg",
"transcript": "XM_011527158.4",
"protein_id": "XP_011525460.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 747,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527158.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1828T>C",
"hgvs_p": "p.Trp610Arg",
"transcript": "XM_011527159.2",
"protein_id": "XP_011525461.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 743,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527159.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1753T>C",
"hgvs_p": "p.Trp585Arg",
"transcript": "XM_047439136.1",
"protein_id": "XP_047295092.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 718,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439136.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1567T>C",
"hgvs_p": "p.Trp523Arg",
"transcript": "XM_017027037.2",
"protein_id": "XP_016882526.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 656,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027037.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Trp301Arg",
"transcript": "XM_011527162.3",
"protein_id": "XP_011525464.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 434,
"cds_start": 901,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527162.3"
},
{
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1669-1104T>C",
"hgvs_p": null,
"transcript": "NM_001161354.2",
"protein_id": "NP_001154826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161354.2"
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1918-1104T>C",
"hgvs_p": null,
"transcript": "XM_047439137.1",
"protein_id": "XP_047295093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": null,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439137.1"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1831-1104T>C",
"hgvs_p": null,
"transcript": "XM_047439138.1",
"protein_id": "XP_047295094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439138.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "n.*422T>C",
"hgvs_p": null,
"transcript": "ENST00000594195.2",
"protein_id": "ENSP00000472636.2",
"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": "ENST00000594195.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "n.3985T>C",
"hgvs_p": null,
"transcript": "ENST00000706736.1",
"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": "retained_intron",
"feature": "ENST00000706736.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "n.250T>C",
"hgvs_p": null,
"transcript": "ENST00000706737.1",
"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": "ENST00000706737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "n.*1367T>C",
"hgvs_p": null,
"transcript": "ENST00000706738.1",
"protein_id": "ENSP00000516522.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "n.*422T>C",
"hgvs_p": null,
"transcript": "ENST00000594195.2",
"protein_id": "ENSP00000472636.2",
"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": "ENST00000594195.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "n.*1367T>C",
"hgvs_p": null,
"transcript": "ENST00000706738.1",
"protein_id": "ENSP00000516522.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "n.275-1104T>C",
"hgvs_p": null,
"transcript": "ENST00000597129.1",
"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": "ENST00000597129.1"
}
],
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"dbsnp": "rs373359143",
"frequency_reference_population": 0.000021301898,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000138488,
"gnomad_genomes_af": 0.0000921453,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0418601930141449,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.6505,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.233,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001438306.1",
"gene_symbol": "PLEKHA4",
"hgnc_id": 14339,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1948T>C",
"hgvs_p": "p.Trp650Arg"
}
],
"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
}