← 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: 8-143920029-CG-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143920029&ref=CG&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PLEC",
"hgnc_id": 9069,
"hgvs_c": "c.10202_10203delCGinsTC",
"hgvs_p": "p.Ala3401Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_201380.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "A",
"aa_start": 3264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14804,
"cdna_start": 9928,
"cds_end": null,
"cds_length": 13644,
"cds_start": 9791,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201384.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9791_9792delCGinsTC",
"hgvs_p": "p.Ala3264Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345136.8",
"protein_coding": true,
"protein_id": "NP_958786.1",
"strand": false,
"transcript": "NM_201384.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "A",
"aa_start": 3264,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14804,
"cdna_start": 9928,
"cds_end": null,
"cds_length": 13644,
"cds_start": 9791,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000345136.8",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9791_9792delCGinsTC",
"hgvs_p": "p.Ala3264Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_201384.3",
"protein_coding": true,
"protein_id": "ENSP00000344848.3",
"strand": false,
"transcript": "ENST00000345136.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4533,
"aa_ref": "A",
"aa_start": 3250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14683,
"cdna_start": 9807,
"cds_end": null,
"cds_length": 13602,
"cds_start": 9749,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201378.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9749_9750delCGinsTC",
"hgvs_p": "p.Ala3250Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000356346.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958780.1",
"strand": false,
"transcript": "NM_201378.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4533,
"aa_ref": "A",
"aa_start": 3250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14683,
"cdna_start": 9807,
"cds_end": null,
"cds_length": 13602,
"cds_start": 9749,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356346.7",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9749_9750delCGinsTC",
"hgvs_p": "p.Ala3250Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_201378.4",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348702.3",
"strand": false,
"transcript": "ENST00000356346.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4684,
"aa_ref": "A",
"aa_start": 3401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15249,
"cdna_start": 10373,
"cds_end": null,
"cds_length": 14055,
"cds_start": 10202,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000322810.8",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.10202_10203delCGinsTC",
"hgvs_p": "p.Ala3401Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323856.4",
"strand": false,
"transcript": "ENST00000322810.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4574,
"aa_ref": "A",
"aa_start": 3291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14787,
"cdna_start": 9911,
"cds_end": null,
"cds_length": 13725,
"cds_start": 9872,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436759.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9872_9873delCGinsTC",
"hgvs_p": "p.Ala3291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388180.2",
"strand": false,
"transcript": "ENST00000436759.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4551,
"aa_ref": "A",
"aa_start": 3268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14689,
"cdna_start": 9813,
"cds_end": null,
"cds_length": 13656,
"cds_start": 9803,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357649.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9803_9804delCGinsTC",
"hgvs_p": "p.Ala3268Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350277.2",
"strand": false,
"transcript": "ENST00000357649.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "A",
"aa_start": 3264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14736,
"cdna_start": 9860,
"cds_end": null,
"cds_length": 13644,
"cds_start": 9791,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354589.7",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9791_9792delCGinsTC",
"hgvs_p": "p.Ala3264Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346602.3",
"strand": false,
"transcript": "ENST00000354589.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4525,
"aa_ref": "A",
"aa_start": 3242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14751,
"cdna_start": 9875,
"cds_end": null,
"cds_length": 13578,
"cds_start": 9725,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354958.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9725_9726delCGinsTC",
"hgvs_p": "p.Ala3242Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347044.2",
"strand": false,
"transcript": "ENST00000354958.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4515,
"aa_ref": "A",
"aa_start": 3232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14646,
"cdna_start": 9770,
"cds_end": null,
"cds_length": 13548,
"cds_start": 9695,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398774.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9695_9696delCGinsTC",
"hgvs_p": "p.Ala3232Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381756.2",
"strand": false,
"transcript": "ENST00000398774.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4684,
"aa_ref": "A",
"aa_start": 3401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15299,
"cdna_start": 10423,
"cds_end": null,
"cds_length": 14055,
"cds_start": 10202,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201380.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.10202_10203delCGinsTC",
"hgvs_p": "p.Ala3401Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958782.1",
"strand": false,
"transcript": "NM_201380.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4591,
"aa_ref": "A",
"aa_start": 3308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13782,
"cdna_start": 9930,
"cds_end": null,
"cds_length": 13776,
"cds_start": 9923,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528025.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9923_9924delCGinsTC",
"hgvs_p": "p.Ala3308Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437303.2",
"strand": false,
"transcript": "ENST00000528025.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4574,
"aa_ref": "A",
"aa_start": 3291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14798,
"cdna_start": 9922,
"cds_end": null,
"cds_length": 13725,
"cds_start": 9872,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000445.5",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9872_9873delCGinsTC",
"hgvs_p": "p.Ala3291Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000436.2",
"strand": false,
"transcript": "NM_000445.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4570,
"aa_ref": "A",
"aa_start": 3287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13713,
"cdna_start": 9861,
"cds_end": null,
"cds_length": 13713,
"cds_start": 9860,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527096.5",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9860_9861delCGinsTC",
"hgvs_p": "p.Ala3287Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434583.1",
"strand": false,
"transcript": "ENST00000527096.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4564,
"aa_ref": "A",
"aa_start": 3281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13737,
"cdna_start": 9885,
"cds_end": null,
"cds_length": 13695,
"cds_start": 9842,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685198.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9842_9843delCGinsTC",
"hgvs_p": "p.Ala3281Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510528.1",
"strand": false,
"transcript": "ENST00000685198.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4551,
"aa_ref": "A",
"aa_start": 3268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14789,
"cdna_start": 9913,
"cds_end": null,
"cds_length": 13656,
"cds_start": 9803,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201383.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9803_9804delCGinsTC",
"hgvs_p": "p.Ala3268Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958785.1",
"strand": false,
"transcript": "NM_201383.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "A",
"aa_start": 3264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14763,
"cdna_start": 9887,
"cds_end": null,
"cds_length": 13644,
"cds_start": 9791,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201382.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9791_9792delCGinsTC",
"hgvs_p": "p.Ala3264Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958784.1",
"strand": false,
"transcript": "NM_201382.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4525,
"aa_ref": "A",
"aa_start": 3242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14665,
"cdna_start": 9789,
"cds_end": null,
"cds_length": 13578,
"cds_start": 9725,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201379.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9725_9726delCGinsTC",
"hgvs_p": "p.Ala3242Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958781.1",
"strand": false,
"transcript": "NM_201379.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4524,
"aa_ref": "A",
"aa_start": 3241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13588,
"cdna_start": 9736,
"cds_end": null,
"cds_length": 13575,
"cds_start": 9722,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000693060.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9722_9723delCGinsTC",
"hgvs_p": "p.Ala3241Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510329.1",
"strand": false,
"transcript": "ENST00000693060.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4515,
"aa_ref": "A",
"aa_start": 3232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14679,
"cdna_start": 9803,
"cds_end": null,
"cds_length": 13548,
"cds_start": 9695,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201381.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9695_9696delCGinsTC",
"hgvs_p": "p.Ala3232Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958783.1",
"strand": false,
"transcript": "NM_201381.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4453,
"aa_ref": "A",
"aa_start": 3170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13695,
"cdna_start": 9843,
"cds_end": null,
"cds_length": 13362,
"cds_start": 9509,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000687971.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9509_9510delCGinsTC",
"hgvs_p": "p.Ala3170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510788.1",
"strand": false,
"transcript": "ENST00000687971.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3447,
"aa_ref": "A",
"aa_start": 2164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11417,
"cdna_start": 6541,
"cds_end": null,
"cds_length": 10344,
"cds_start": 6491,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410941.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6491_6492delCGinsTC",
"hgvs_p": "p.Ala2164Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397870.1",
"strand": false,
"transcript": "NM_001410941.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3447,
"aa_ref": "A",
"aa_start": 2164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11406,
"cdna_start": 6530,
"cds_end": null,
"cds_length": 10344,
"cds_start": 6491,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527303.2",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6491_6492delCGinsTC",
"hgvs_p": "p.Ala2164Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433982.2",
"strand": false,
"transcript": "ENST00000527303.2",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3416,
"aa_ref": "A",
"aa_start": 2133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11379,
"cdna_start": 6502,
"cds_end": null,
"cds_length": 10251,
"cds_start": 6398,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915284.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6398_6399delCGinsTC",
"hgvs_p": "p.Ala2133Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585343.1",
"strand": false,
"transcript": "ENST00000915284.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4689,
"aa_ref": "A",
"aa_start": 3406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15314,
"cdna_start": 10438,
"cds_end": null,
"cds_length": 14070,
"cds_start": 10217,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250976.5",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.10217_10218delCGinsTC",
"hgvs_p": "p.Ala3406Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251033.1",
"strand": false,
"transcript": "XM_005250976.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4680,
"aa_ref": "A",
"aa_start": 3397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15287,
"cdna_start": 10411,
"cds_end": null,
"cds_length": 14043,
"cds_start": 10190,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421870.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.10190_10191delCGinsTC",
"hgvs_p": "p.Ala3397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277826.1",
"strand": false,
"transcript": "XM_047421870.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4579,
"aa_ref": "A",
"aa_start": 3296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14813,
"cdna_start": 9937,
"cds_end": null,
"cds_length": 13740,
"cds_start": 9887,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716588.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9887_9888delCGinsTC",
"hgvs_p": "p.Ala3296Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716651.1",
"strand": false,
"transcript": "XM_006716588.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4570,
"aa_ref": "A",
"aa_start": 3287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14786,
"cdna_start": 9910,
"cds_end": null,
"cds_length": 13713,
"cds_start": 9860,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421872.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9860_9861delCGinsTC",
"hgvs_p": "p.Ala3287Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277828.1",
"strand": false,
"transcript": "XM_047421872.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4556,
"aa_ref": "A",
"aa_start": 3273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14804,
"cdna_start": 9928,
"cds_end": null,
"cds_length": 13671,
"cds_start": 9818,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250978.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9818_9819delCGinsTC",
"hgvs_p": "p.Ala3273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251035.1",
"strand": false,
"transcript": "XM_005250978.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4552,
"aa_ref": "A",
"aa_start": 3269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14778,
"cdna_start": 9902,
"cds_end": null,
"cds_length": 13659,
"cds_start": 9806,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250979.5",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9806_9807delCGinsTC",
"hgvs_p": "p.Ala3269Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251036.1",
"strand": false,
"transcript": "XM_005250979.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4552,
"aa_ref": "A",
"aa_start": 3269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14819,
"cdna_start": 9943,
"cds_end": null,
"cds_length": 13659,
"cds_start": 9806,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250980.5",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9806_9807delCGinsTC",
"hgvs_p": "p.Ala3269Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251037.1",
"strand": false,
"transcript": "XM_005250980.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4552,
"aa_ref": "A",
"aa_start": 3269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14792,
"cdna_start": 9916,
"cds_end": null,
"cds_length": 13659,
"cds_start": 9806,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517130.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9806_9807delCGinsTC",
"hgvs_p": "p.Ala3269Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515432.1",
"strand": false,
"transcript": "XM_011517130.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "A",
"aa_start": 3264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14777,
"cdna_start": 9901,
"cds_end": null,
"cds_length": 13644,
"cds_start": 9791,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421869.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9791_9792delCGinsTC",
"hgvs_p": "p.Ala3264Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277825.1",
"strand": false,
"transcript": "XM_047421869.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4543,
"aa_ref": "A",
"aa_start": 3260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14792,
"cdna_start": 9916,
"cds_end": null,
"cds_length": 13632,
"cds_start": 9779,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421873.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9779_9780delCGinsTC",
"hgvs_p": "p.Ala3260Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277829.1",
"strand": false,
"transcript": "XM_047421873.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4543,
"aa_ref": "A",
"aa_start": 3260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14751,
"cdna_start": 9875,
"cds_end": null,
"cds_length": 13632,
"cds_start": 9779,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421874.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9779_9780delCGinsTC",
"hgvs_p": "p.Ala3260Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277830.1",
"strand": false,
"transcript": "XM_047421874.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4538,
"aa_ref": "A",
"aa_start": 3255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14698,
"cdna_start": 9822,
"cds_end": null,
"cds_length": 13617,
"cds_start": 9764,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250981.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9764_9765delCGinsTC",
"hgvs_p": "p.Ala3255Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251038.1",
"strand": false,
"transcript": "XM_005250981.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4530,
"aa_ref": "A",
"aa_start": 3247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14680,
"cdna_start": 9804,
"cds_end": null,
"cds_length": 13593,
"cds_start": 9740,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250982.5",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9740_9741delCGinsTC",
"hgvs_p": "p.Ala3247Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251039.1",
"strand": false,
"transcript": "XM_005250982.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4529,
"aa_ref": "A",
"aa_start": 3246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14662,
"cdna_start": 9786,
"cds_end": null,
"cds_length": 13590,
"cds_start": 9737,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716589.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9737_9738delCGinsTC",
"hgvs_p": "p.Ala3246Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716652.1",
"strand": false,
"transcript": "XM_006716589.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4529,
"aa_ref": "A",
"aa_start": 3246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14680,
"cdna_start": 9804,
"cds_end": null,
"cds_length": 13590,
"cds_start": 9737,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716590.4",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9737_9738delCGinsTC",
"hgvs_p": "p.Ala3246Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716653.1",
"strand": false,
"transcript": "XM_006716590.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4529,
"aa_ref": "A",
"aa_start": 3246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14671,
"cdna_start": 9795,
"cds_end": null,
"cds_length": 13590,
"cds_start": 9737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421875.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9737_9738delCGinsTC",
"hgvs_p": "p.Ala3246Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277831.1",
"strand": false,
"transcript": "XM_047421875.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4524,
"aa_ref": "A",
"aa_start": 3241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14647,
"cdna_start": 9771,
"cds_end": null,
"cds_length": 13575,
"cds_start": 9722,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250983.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9722_9723delCGinsTC",
"hgvs_p": "p.Ala3241Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251040.1",
"strand": false,
"transcript": "XM_005250983.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4524,
"aa_ref": "A",
"aa_start": 3241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14665,
"cdna_start": 9789,
"cds_end": null,
"cds_length": 13575,
"cds_start": 9722,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517131.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9722_9723delCGinsTC",
"hgvs_p": "p.Ala3241Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515433.1",
"strand": false,
"transcript": "XM_011517131.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4521,
"aa_ref": "A",
"aa_start": 3238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14653,
"cdna_start": 9777,
"cds_end": null,
"cds_length": 13566,
"cds_start": 9713,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421877.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9713_9714delCGinsTC",
"hgvs_p": "p.Ala3238Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277833.1",
"strand": false,
"transcript": "XM_047421877.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4520,
"aa_ref": "A",
"aa_start": 3237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14694,
"cdna_start": 9818,
"cds_end": null,
"cds_length": 13563,
"cds_start": 9710,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250984.6",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9710_9711delCGinsTC",
"hgvs_p": "p.Ala3237Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251041.1",
"strand": false,
"transcript": "XM_005250984.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4520,
"aa_ref": "A",
"aa_start": 3237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14635,
"cdna_start": 9759,
"cds_end": null,
"cds_length": 13563,
"cds_start": 9710,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421878.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9710_9711delCGinsTC",
"hgvs_p": "p.Ala3237Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277834.1",
"strand": false,
"transcript": "XM_047421878.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 4453,
"aa_ref": "A",
"aa_start": 3170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14881,
"cdna_start": 10005,
"cds_end": null,
"cds_length": 13362,
"cds_start": 9509,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421879.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.9509_9510delCGinsTC",
"hgvs_p": "p.Ala3170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277835.1",
"strand": false,
"transcript": "XM_047421879.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3557,
"aa_ref": "A",
"aa_start": 2274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11918,
"cdna_start": 7042,
"cds_end": null,
"cds_length": 10674,
"cds_start": 6821,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421882.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6821_6822delCGinsTC",
"hgvs_p": "p.Ala2274Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277838.1",
"strand": false,
"transcript": "XM_047421882.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3553,
"aa_ref": "A",
"aa_start": 2270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11906,
"cdna_start": 7030,
"cds_end": null,
"cds_length": 10662,
"cds_start": 6809,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421884.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6809_6810delCGinsTC",
"hgvs_p": "p.Ala2270Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277840.1",
"strand": false,
"transcript": "XM_047421884.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3429,
"aa_ref": "A",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11423,
"cdna_start": 6547,
"cds_end": null,
"cds_length": 10290,
"cds_start": 6437,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517132.3",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6437_6438delCGinsTC",
"hgvs_p": "p.Ala2146Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515434.1",
"strand": false,
"transcript": "XM_011517132.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3425,
"aa_ref": "A",
"aa_start": 2142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11411,
"cdna_start": 6535,
"cds_end": null,
"cds_length": 10278,
"cds_start": 6425,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421880.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6425_6426delCGinsTC",
"hgvs_p": "p.Ala2142Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277836.1",
"strand": false,
"transcript": "XM_047421880.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3420,
"aa_ref": "A",
"aa_start": 2137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11396,
"cdna_start": 6520,
"cds_end": null,
"cds_length": 10263,
"cds_start": 6410,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421881.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6410_6411delCGinsTC",
"hgvs_p": "p.Ala2137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277837.1",
"strand": false,
"transcript": "XM_047421881.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3420,
"aa_ref": "A",
"aa_start": 2137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11423,
"cdna_start": 6547,
"cds_end": null,
"cds_length": 10263,
"cds_start": 6410,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421886.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6410_6411delCGinsTC",
"hgvs_p": "p.Ala2137Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277842.1",
"strand": false,
"transcript": "XM_047421886.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3416,
"aa_ref": "A",
"aa_start": 2133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11411,
"cdna_start": 6535,
"cds_end": null,
"cds_length": 10251,
"cds_start": 6398,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421887.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6398_6399delCGinsTC",
"hgvs_p": "p.Ala2133Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277843.1",
"strand": false,
"transcript": "XM_047421887.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3416,
"aa_ref": "A",
"aa_start": 2133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11370,
"cdna_start": 6494,
"cds_end": null,
"cds_length": 10251,
"cds_start": 6398,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421888.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6398_6399delCGinsTC",
"hgvs_p": "p.Ala2133Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277844.1",
"strand": false,
"transcript": "XM_047421888.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3406,
"aa_ref": "A",
"aa_start": 2123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11302,
"cdna_start": 6426,
"cds_end": null,
"cds_length": 10221,
"cds_start": 6368,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421889.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6368_6369delCGinsTC",
"hgvs_p": "p.Ala2123Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277845.1",
"strand": false,
"transcript": "XM_047421889.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3402,
"aa_ref": "A",
"aa_start": 2119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11290,
"cdna_start": 6414,
"cds_end": null,
"cds_length": 10209,
"cds_start": 6356,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421890.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6356_6357delCGinsTC",
"hgvs_p": "p.Ala2119Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277846.1",
"strand": false,
"transcript": "XM_047421890.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3398,
"aa_ref": "A",
"aa_start": 2115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11284,
"cdna_start": 6408,
"cds_end": null,
"cds_length": 10197,
"cds_start": 6344,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421891.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6344_6345delCGinsTC",
"hgvs_p": "p.Ala2115Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277847.1",
"strand": false,
"transcript": "XM_047421891.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3397,
"aa_ref": "A",
"aa_start": 2114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11266,
"cdna_start": 6390,
"cds_end": null,
"cds_length": 10194,
"cds_start": 6341,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421892.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6341_6342delCGinsTC",
"hgvs_p": "p.Ala2114Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277848.1",
"strand": false,
"transcript": "XM_047421892.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3394,
"aa_ref": "A",
"aa_start": 2111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11272,
"cdna_start": 6396,
"cds_end": null,
"cds_length": 10185,
"cds_start": 6332,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421893.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6332_6333delCGinsTC",
"hgvs_p": "p.Ala2111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277849.1",
"strand": false,
"transcript": "XM_047421893.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3393,
"aa_ref": "A",
"aa_start": 2110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11254,
"cdna_start": 6378,
"cds_end": null,
"cds_length": 10182,
"cds_start": 6329,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421895.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.6329_6330delCGinsTC",
"hgvs_p": "p.Ala2110Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277851.1",
"strand": false,
"transcript": "XM_047421895.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2111,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7559,
"cdna_start": null,
"cds_end": null,
"cds_length": 6336,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915283.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.4045-1562_4045-1561delCGinsTC",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585342.1",
"strand": false,
"transcript": "ENST00000915283.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.08,
"pos": 143920029,
"ref": "CG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_201380.4"
}
]
}