← 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: 8-143927037-CGG-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143927037&ref=CGG&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLEC",
"hgnc_id": 9069,
"hgvs_c": "c.4294_4296delCCGinsAGT",
"hgvs_p": "p.Pro1432Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_201380.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"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": "S",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "P",
"aa_start": 1295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14804,
"cdna_start": 4021,
"cds_end": null,
"cds_length": 13644,
"cds_start": 3883,
"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.3883_3885delCCGinsAGT",
"hgvs_p": "p.Pro1295Ser",
"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": "S",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "P",
"aa_start": 1295,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14804,
"cdna_start": 4021,
"cds_end": null,
"cds_length": 13644,
"cds_start": 3883,
"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.3883_3885delCCGinsAGT",
"hgvs_p": "p.Pro1295Ser",
"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": "S",
"aa_end": null,
"aa_length": 4533,
"aa_ref": "P",
"aa_start": 1281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14683,
"cdna_start": 3900,
"cds_end": null,
"cds_length": 13602,
"cds_start": 3841,
"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.3841_3843delCCGinsAGT",
"hgvs_p": "p.Pro1281Ser",
"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": "S",
"aa_end": null,
"aa_length": 4533,
"aa_ref": "P",
"aa_start": 1281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14683,
"cdna_start": 3900,
"cds_end": null,
"cds_length": 13602,
"cds_start": 3841,
"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.3841_3843delCCGinsAGT",
"hgvs_p": "p.Pro1281Ser",
"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": "S",
"aa_end": null,
"aa_length": 4684,
"aa_ref": "P",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15249,
"cdna_start": 4466,
"cds_end": null,
"cds_length": 14055,
"cds_start": 4294,
"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.4294_4296delCCGinsAGT",
"hgvs_p": "p.Pro1432Ser",
"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": "S",
"aa_end": null,
"aa_length": 4574,
"aa_ref": "P",
"aa_start": 1322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14787,
"cdna_start": 4004,
"cds_end": null,
"cds_length": 13725,
"cds_start": 3964,
"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.3964_3966delCCGinsAGT",
"hgvs_p": "p.Pro1322Ser",
"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": "S",
"aa_end": null,
"aa_length": 4551,
"aa_ref": "P",
"aa_start": 1299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14689,
"cdna_start": 3906,
"cds_end": null,
"cds_length": 13656,
"cds_start": 3895,
"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.3895_3897delCCGinsAGT",
"hgvs_p": "p.Pro1299Ser",
"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": "S",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "P",
"aa_start": 1295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14736,
"cdna_start": 3953,
"cds_end": null,
"cds_length": 13644,
"cds_start": 3883,
"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.3883_3885delCCGinsAGT",
"hgvs_p": "p.Pro1295Ser",
"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": "S",
"aa_end": null,
"aa_length": 4525,
"aa_ref": "P",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14751,
"cdna_start": 3968,
"cds_end": null,
"cds_length": 13578,
"cds_start": 3817,
"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.3817_3819delCCGinsAGT",
"hgvs_p": "p.Pro1273Ser",
"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": "S",
"aa_end": null,
"aa_length": 4515,
"aa_ref": "P",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14646,
"cdna_start": 3863,
"cds_end": null,
"cds_length": 13548,
"cds_start": 3787,
"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.3787_3789delCCGinsAGT",
"hgvs_p": "p.Pro1263Ser",
"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": "S",
"aa_end": null,
"aa_length": 4684,
"aa_ref": "P",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15299,
"cdna_start": 4516,
"cds_end": null,
"cds_length": 14055,
"cds_start": 4294,
"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.4294_4296delCCGinsAGT",
"hgvs_p": "p.Pro1432Ser",
"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": "S",
"aa_end": null,
"aa_length": 4591,
"aa_ref": "P",
"aa_start": 1339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13782,
"cdna_start": 4023,
"cds_end": null,
"cds_length": 13776,
"cds_start": 4015,
"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.4015_4017delCCGinsAGT",
"hgvs_p": "p.Pro1339Ser",
"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": "S",
"aa_end": null,
"aa_length": 4574,
"aa_ref": "P",
"aa_start": 1322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14798,
"cdna_start": 4015,
"cds_end": null,
"cds_length": 13725,
"cds_start": 3964,
"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.3964_3966delCCGinsAGT",
"hgvs_p": "p.Pro1322Ser",
"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": "S",
"aa_end": null,
"aa_length": 4570,
"aa_ref": "P",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13713,
"cdna_start": 3954,
"cds_end": null,
"cds_length": 13713,
"cds_start": 3952,
"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.3952_3954delCCGinsAGT",
"hgvs_p": "p.Pro1318Ser",
"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": "S",
"aa_end": null,
"aa_length": 4564,
"aa_ref": "P",
"aa_start": 1312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13737,
"cdna_start": 3978,
"cds_end": null,
"cds_length": 13695,
"cds_start": 3934,
"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.3934_3936delCCGinsAGT",
"hgvs_p": "p.Pro1312Ser",
"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": "S",
"aa_end": null,
"aa_length": 4551,
"aa_ref": "P",
"aa_start": 1299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14789,
"cdna_start": 4006,
"cds_end": null,
"cds_length": 13656,
"cds_start": 3895,
"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.3895_3897delCCGinsAGT",
"hgvs_p": "p.Pro1299Ser",
"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": "S",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "P",
"aa_start": 1295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14763,
"cdna_start": 3980,
"cds_end": null,
"cds_length": 13644,
"cds_start": 3883,
"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.3883_3885delCCGinsAGT",
"hgvs_p": "p.Pro1295Ser",
"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": "S",
"aa_end": null,
"aa_length": 4525,
"aa_ref": "P",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14665,
"cdna_start": 3882,
"cds_end": null,
"cds_length": 13578,
"cds_start": 3817,
"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.3817_3819delCCGinsAGT",
"hgvs_p": "p.Pro1273Ser",
"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": "S",
"aa_end": null,
"aa_length": 4524,
"aa_ref": "P",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13588,
"cdna_start": 3829,
"cds_end": null,
"cds_length": 13575,
"cds_start": 3814,
"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.3814_3816delCCGinsAGT",
"hgvs_p": "p.Pro1272Ser",
"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": "S",
"aa_end": null,
"aa_length": 4515,
"aa_ref": "P",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14679,
"cdna_start": 3896,
"cds_end": null,
"cds_length": 13548,
"cds_start": 3787,
"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.3787_3789delCCGinsAGT",
"hgvs_p": "p.Pro1263Ser",
"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": "S",
"aa_end": null,
"aa_length": 4453,
"aa_ref": "P",
"aa_start": 1201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13695,
"cdna_start": 3936,
"cds_end": null,
"cds_length": 13362,
"cds_start": 3601,
"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.3601_3603delCCGinsAGT",
"hgvs_p": "p.Pro1201Ser",
"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": "S",
"aa_end": null,
"aa_length": 3447,
"aa_ref": "P",
"aa_start": 1322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11417,
"cdna_start": 4015,
"cds_end": null,
"cds_length": 10344,
"cds_start": 3964,
"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.3964_3966delCCGinsAGT",
"hgvs_p": "p.Pro1322Ser",
"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": "S",
"aa_end": null,
"aa_length": 3447,
"aa_ref": "P",
"aa_start": 1322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11406,
"cdna_start": 4004,
"cds_end": null,
"cds_length": 10344,
"cds_start": 3964,
"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.3964_3966delCCGinsAGT",
"hgvs_p": "p.Pro1322Ser",
"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": "S",
"aa_end": null,
"aa_length": 3416,
"aa_ref": "P",
"aa_start": 1291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11379,
"cdna_start": 3976,
"cds_end": null,
"cds_length": 10251,
"cds_start": 3871,
"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.3871_3873delCCGinsAGT",
"hgvs_p": "p.Pro1291Ser",
"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": "S",
"aa_end": null,
"aa_length": 2111,
"aa_ref": "P",
"aa_start": 1295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7559,
"cdna_start": 4085,
"cds_end": null,
"cds_length": 6336,
"cds_start": 3883,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915283.1",
"gene_hgnc_id": 9069,
"gene_symbol": "PLEC",
"hgvs_c": "c.3883_3885delCCGinsAGT",
"hgvs_p": "p.Pro1295Ser",
"intron_rank": null,
"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
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 4689,
"aa_ref": "P",
"aa_start": 1437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15314,
"cdna_start": 4531,
"cds_end": null,
"cds_length": 14070,
"cds_start": 4309,
"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.4309_4311delCCGinsAGT",
"hgvs_p": "p.Pro1437Ser",
"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": "S",
"aa_end": null,
"aa_length": 4680,
"aa_ref": "P",
"aa_start": 1428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15287,
"cdna_start": 4504,
"cds_end": null,
"cds_length": 14043,
"cds_start": 4282,
"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.4282_4284delCCGinsAGT",
"hgvs_p": "p.Pro1428Ser",
"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": "S",
"aa_end": null,
"aa_length": 4579,
"aa_ref": "P",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14813,
"cdna_start": 4030,
"cds_end": null,
"cds_length": 13740,
"cds_start": 3979,
"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.3979_3981delCCGinsAGT",
"hgvs_p": "p.Pro1327Ser",
"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": "S",
"aa_end": null,
"aa_length": 4570,
"aa_ref": "P",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14786,
"cdna_start": 4003,
"cds_end": null,
"cds_length": 13713,
"cds_start": 3952,
"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.3952_3954delCCGinsAGT",
"hgvs_p": "p.Pro1318Ser",
"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": "S",
"aa_end": null,
"aa_length": 4556,
"aa_ref": "P",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14804,
"cdna_start": 4021,
"cds_end": null,
"cds_length": 13671,
"cds_start": 3910,
"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.3910_3912delCCGinsAGT",
"hgvs_p": "p.Pro1304Ser",
"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": "S",
"aa_end": null,
"aa_length": 4552,
"aa_ref": "P",
"aa_start": 1300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14778,
"cdna_start": 3995,
"cds_end": null,
"cds_length": 13659,
"cds_start": 3898,
"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.3898_3900delCCGinsAGT",
"hgvs_p": "p.Pro1300Ser",
"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": "S",
"aa_end": null,
"aa_length": 4552,
"aa_ref": "P",
"aa_start": 1300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14819,
"cdna_start": 4036,
"cds_end": null,
"cds_length": 13659,
"cds_start": 3898,
"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.3898_3900delCCGinsAGT",
"hgvs_p": "p.Pro1300Ser",
"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": "S",
"aa_end": null,
"aa_length": 4552,
"aa_ref": "P",
"aa_start": 1300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14792,
"cdna_start": 4009,
"cds_end": null,
"cds_length": 13659,
"cds_start": 3898,
"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.3898_3900delCCGinsAGT",
"hgvs_p": "p.Pro1300Ser",
"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": "S",
"aa_end": null,
"aa_length": 4547,
"aa_ref": "P",
"aa_start": 1295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14777,
"cdna_start": 3994,
"cds_end": null,
"cds_length": 13644,
"cds_start": 3883,
"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.3883_3885delCCGinsAGT",
"hgvs_p": "p.Pro1295Ser",
"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": "S",
"aa_end": null,
"aa_length": 4543,
"aa_ref": "P",
"aa_start": 1291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14792,
"cdna_start": 4009,
"cds_end": null,
"cds_length": 13632,
"cds_start": 3871,
"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.3871_3873delCCGinsAGT",
"hgvs_p": "p.Pro1291Ser",
"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": "S",
"aa_end": null,
"aa_length": 4543,
"aa_ref": "P",
"aa_start": 1291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14751,
"cdna_start": 3968,
"cds_end": null,
"cds_length": 13632,
"cds_start": 3871,
"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.3871_3873delCCGinsAGT",
"hgvs_p": "p.Pro1291Ser",
"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": "S",
"aa_end": null,
"aa_length": 4538,
"aa_ref": "P",
"aa_start": 1286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14698,
"cdna_start": 3915,
"cds_end": null,
"cds_length": 13617,
"cds_start": 3856,
"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.3856_3858delCCGinsAGT",
"hgvs_p": "p.Pro1286Ser",
"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": "S",
"aa_end": null,
"aa_length": 4530,
"aa_ref": "P",
"aa_start": 1278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14680,
"cdna_start": 3897,
"cds_end": null,
"cds_length": 13593,
"cds_start": 3832,
"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.3832_3834delCCGinsAGT",
"hgvs_p": "p.Pro1278Ser",
"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": "S",
"aa_end": null,
"aa_length": 4529,
"aa_ref": "P",
"aa_start": 1277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14662,
"cdna_start": 3879,
"cds_end": null,
"cds_length": 13590,
"cds_start": 3829,
"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.3829_3831delCCGinsAGT",
"hgvs_p": "p.Pro1277Ser",
"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": "S",
"aa_end": null,
"aa_length": 4529,
"aa_ref": "P",
"aa_start": 1277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14680,
"cdna_start": 3897,
"cds_end": null,
"cds_length": 13590,
"cds_start": 3829,
"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.3829_3831delCCGinsAGT",
"hgvs_p": "p.Pro1277Ser",
"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": "S",
"aa_end": null,
"aa_length": 4529,
"aa_ref": "P",
"aa_start": 1277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14671,
"cdna_start": 3888,
"cds_end": null,
"cds_length": 13590,
"cds_start": 3829,
"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.3829_3831delCCGinsAGT",
"hgvs_p": "p.Pro1277Ser",
"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": "S",
"aa_end": null,
"aa_length": 4524,
"aa_ref": "P",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14647,
"cdna_start": 3864,
"cds_end": null,
"cds_length": 13575,
"cds_start": 3814,
"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.3814_3816delCCGinsAGT",
"hgvs_p": "p.Pro1272Ser",
"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": "S",
"aa_end": null,
"aa_length": 4524,
"aa_ref": "P",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14665,
"cdna_start": 3882,
"cds_end": null,
"cds_length": 13575,
"cds_start": 3814,
"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.3814_3816delCCGinsAGT",
"hgvs_p": "p.Pro1272Ser",
"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": "S",
"aa_end": null,
"aa_length": 4521,
"aa_ref": "P",
"aa_start": 1269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14653,
"cdna_start": 3870,
"cds_end": null,
"cds_length": 13566,
"cds_start": 3805,
"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.3805_3807delCCGinsAGT",
"hgvs_p": "p.Pro1269Ser",
"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": "S",
"aa_end": null,
"aa_length": 4520,
"aa_ref": "P",
"aa_start": 1268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14694,
"cdna_start": 3911,
"cds_end": null,
"cds_length": 13563,
"cds_start": 3802,
"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.3802_3804delCCGinsAGT",
"hgvs_p": "p.Pro1268Ser",
"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": "S",
"aa_end": null,
"aa_length": 4520,
"aa_ref": "P",
"aa_start": 1268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14635,
"cdna_start": 3852,
"cds_end": null,
"cds_length": 13563,
"cds_start": 3802,
"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.3802_3804delCCGinsAGT",
"hgvs_p": "p.Pro1268Ser",
"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": "S",
"aa_end": null,
"aa_length": 4453,
"aa_ref": "P",
"aa_start": 1201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14881,
"cdna_start": 4098,
"cds_end": null,
"cds_length": 13362,
"cds_start": 3601,
"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.3601_3603delCCGinsAGT",
"hgvs_p": "p.Pro1201Ser",
"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": "S",
"aa_end": null,
"aa_length": 3557,
"aa_ref": "P",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11918,
"cdna_start": 4516,
"cds_end": null,
"cds_length": 10674,
"cds_start": 4294,
"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.4294_4296delCCGinsAGT",
"hgvs_p": "p.Pro1432Ser",
"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": "S",
"aa_end": null,
"aa_length": 3553,
"aa_ref": "P",
"aa_start": 1428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11906,
"cdna_start": 4504,
"cds_end": null,
"cds_length": 10662,
"cds_start": 4282,
"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.4282_4284delCCGinsAGT",
"hgvs_p": "p.Pro1428Ser",
"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": "S",
"aa_end": null,
"aa_length": 3429,
"aa_ref": "P",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11423,
"cdna_start": 4021,
"cds_end": null,
"cds_length": 10290,
"cds_start": 3910,
"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.3910_3912delCCGinsAGT",
"hgvs_p": "p.Pro1304Ser",
"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": "S",
"aa_end": null,
"aa_length": 3425,
"aa_ref": "P",
"aa_start": 1300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11411,
"cdna_start": 4009,
"cds_end": null,
"cds_length": 10278,
"cds_start": 3898,
"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.3898_3900delCCGinsAGT",
"hgvs_p": "p.Pro1300Ser",
"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": "S",
"aa_end": null,
"aa_length": 3420,
"aa_ref": "P",
"aa_start": 1295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11396,
"cdna_start": 3994,
"cds_end": null,
"cds_length": 10263,
"cds_start": 3883,
"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.3883_3885delCCGinsAGT",
"hgvs_p": "p.Pro1295Ser",
"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": "S",
"aa_end": null,
"aa_length": 3420,
"aa_ref": "P",
"aa_start": 1295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11423,
"cdna_start": 4021,
"cds_end": null,
"cds_length": 10263,
"cds_start": 3883,
"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.3883_3885delCCGinsAGT",
"hgvs_p": "p.Pro1295Ser",
"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": "S",
"aa_end": null,
"aa_length": 3416,
"aa_ref": "P",
"aa_start": 1291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11411,
"cdna_start": 4009,
"cds_end": null,
"cds_length": 10251,
"cds_start": 3871,
"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.3871_3873delCCGinsAGT",
"hgvs_p": "p.Pro1291Ser",
"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": "S",
"aa_end": null,
"aa_length": 3416,
"aa_ref": "P",
"aa_start": 1291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11370,
"cdna_start": 3968,
"cds_end": null,
"cds_length": 10251,
"cds_start": 3871,
"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.3871_3873delCCGinsAGT",
"hgvs_p": "p.Pro1291Ser",
"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": "S",
"aa_end": null,
"aa_length": 3406,
"aa_ref": "P",
"aa_start": 1281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11302,
"cdna_start": 3900,
"cds_end": null,
"cds_length": 10221,
"cds_start": 3841,
"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.3841_3843delCCGinsAGT",
"hgvs_p": "p.Pro1281Ser",
"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": "S",
"aa_end": null,
"aa_length": 3402,
"aa_ref": "P",
"aa_start": 1277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11290,
"cdna_start": 3888,
"cds_end": null,
"cds_length": 10209,
"cds_start": 3829,
"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.3829_3831delCCGinsAGT",
"hgvs_p": "p.Pro1277Ser",
"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": "S",
"aa_end": null,
"aa_length": 3398,
"aa_ref": "P",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11284,
"cdna_start": 3882,
"cds_end": null,
"cds_length": 10197,
"cds_start": 3817,
"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.3817_3819delCCGinsAGT",
"hgvs_p": "p.Pro1273Ser",
"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": "S",
"aa_end": null,
"aa_length": 3397,
"aa_ref": "P",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11266,
"cdna_start": 3864,
"cds_end": null,
"cds_length": 10194,
"cds_start": 3814,
"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.3814_3816delCCGinsAGT",
"hgvs_p": "p.Pro1272Ser",
"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": "S",
"aa_end": null,
"aa_length": 3394,
"aa_ref": "P",
"aa_start": 1269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11272,
"cdna_start": 3870,
"cds_end": null,
"cds_length": 10185,
"cds_start": 3805,
"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.3805_3807delCCGinsAGT",
"hgvs_p": "p.Pro1269Ser",
"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": "S",
"aa_end": null,
"aa_length": 3393,
"aa_ref": "P",
"aa_start": 1268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11254,
"cdna_start": 3852,
"cds_end": null,
"cds_length": 10182,
"cds_start": 3802,
"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.3802_3804delCCGinsAGT",
"hgvs_p": "p.Pro1268Ser",
"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
}
],
"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": "Pathogenic",
"phylop100way_score": 9.671,
"pos": 143927037,
"ref": "CGG",
"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"
}
]
}