← 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: 8-143916612-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143916612&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143916612,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000345136.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13209G>A",
"hgvs_p": "p.Pro4403Pro",
"transcript": "NM_201384.3",
"protein_id": "NP_958786.1",
"transcript_support_level": null,
"aa_start": 4403,
"aa_end": null,
"aa_length": 4547,
"cds_start": 13209,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 13345,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "ENST00000345136.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13209G>A",
"hgvs_p": "p.Pro4403Pro",
"transcript": "ENST00000345136.8",
"protein_id": "ENSP00000344848.3",
"transcript_support_level": 1,
"aa_start": 4403,
"aa_end": null,
"aa_length": 4547,
"cds_start": 13209,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 13345,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "NM_201384.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13167G>A",
"hgvs_p": "p.Pro4389Pro",
"transcript": "NM_201378.4",
"protein_id": "NP_958780.1",
"transcript_support_level": null,
"aa_start": 4389,
"aa_end": null,
"aa_length": 4533,
"cds_start": 13167,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 13224,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "ENST00000356346.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13167G>A",
"hgvs_p": "p.Pro4389Pro",
"transcript": "ENST00000356346.7",
"protein_id": "ENSP00000348702.3",
"transcript_support_level": 1,
"aa_start": 4389,
"aa_end": null,
"aa_length": 4533,
"cds_start": 13167,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 13224,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "NM_201378.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13620G>A",
"hgvs_p": "p.Pro4540Pro",
"transcript": "ENST00000322810.8",
"protein_id": "ENSP00000323856.4",
"transcript_support_level": 1,
"aa_start": 4540,
"aa_end": null,
"aa_length": 4684,
"cds_start": 13620,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 13790,
"cdna_end": null,
"cdna_length": 15249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13290G>A",
"hgvs_p": "p.Pro4430Pro",
"transcript": "ENST00000436759.6",
"protein_id": "ENSP00000388180.2",
"transcript_support_level": 1,
"aa_start": 4430,
"aa_end": null,
"aa_length": 4574,
"cds_start": 13290,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 13328,
"cdna_end": null,
"cdna_length": 14787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13221G>A",
"hgvs_p": "p.Pro4407Pro",
"transcript": "ENST00000357649.6",
"protein_id": "ENSP00000350277.2",
"transcript_support_level": 1,
"aa_start": 4407,
"aa_end": null,
"aa_length": 4551,
"cds_start": 13221,
"cds_end": null,
"cds_length": 13656,
"cdna_start": 13230,
"cdna_end": null,
"cdna_length": 14689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13209G>A",
"hgvs_p": "p.Pro4403Pro",
"transcript": "ENST00000354589.7",
"protein_id": "ENSP00000346602.3",
"transcript_support_level": 1,
"aa_start": 4403,
"aa_end": null,
"aa_length": 4547,
"cds_start": 13209,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 13277,
"cdna_end": null,
"cdna_length": 14736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13143G>A",
"hgvs_p": "p.Pro4381Pro",
"transcript": "ENST00000354958.6",
"protein_id": "ENSP00000347044.2",
"transcript_support_level": 1,
"aa_start": 4381,
"aa_end": null,
"aa_length": 4525,
"cds_start": 13143,
"cds_end": null,
"cds_length": 13578,
"cdna_start": 13292,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13113G>A",
"hgvs_p": "p.Pro4371Pro",
"transcript": "ENST00000398774.6",
"protein_id": "ENSP00000381756.2",
"transcript_support_level": 1,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4515,
"cds_start": 13113,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 13187,
"cdna_end": null,
"cdna_length": 14646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13620G>A",
"hgvs_p": "p.Pro4540Pro",
"transcript": "NM_201380.4",
"protein_id": "NP_958782.1",
"transcript_support_level": null,
"aa_start": 4540,
"aa_end": null,
"aa_length": 4684,
"cds_start": 13620,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 13840,
"cdna_end": null,
"cdna_length": 15299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13341G>A",
"hgvs_p": "p.Pro4447Pro",
"transcript": "ENST00000528025.6",
"protein_id": "ENSP00000437303.2",
"transcript_support_level": 5,
"aa_start": 4447,
"aa_end": null,
"aa_length": 4591,
"cds_start": 13341,
"cds_end": null,
"cds_length": 13776,
"cdna_start": 13347,
"cdna_end": null,
"cdna_length": 13782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13290G>A",
"hgvs_p": "p.Pro4430Pro",
"transcript": "NM_000445.5",
"protein_id": "NP_000436.2",
"transcript_support_level": null,
"aa_start": 4430,
"aa_end": null,
"aa_length": 4574,
"cds_start": 13290,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 13339,
"cdna_end": null,
"cdna_length": 14798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13278G>A",
"hgvs_p": "p.Pro4426Pro",
"transcript": "ENST00000527096.5",
"protein_id": "ENSP00000434583.1",
"transcript_support_level": 5,
"aa_start": 4426,
"aa_end": null,
"aa_length": 4570,
"cds_start": 13278,
"cds_end": null,
"cds_length": 13713,
"cdna_start": 13278,
"cdna_end": null,
"cdna_length": 13713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13260G>A",
"hgvs_p": "p.Pro4420Pro",
"transcript": "ENST00000685198.1",
"protein_id": "ENSP00000510528.1",
"transcript_support_level": null,
"aa_start": 4420,
"aa_end": null,
"aa_length": 4564,
"cds_start": 13260,
"cds_end": null,
"cds_length": 13695,
"cdna_start": 13302,
"cdna_end": null,
"cdna_length": 13737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13221G>A",
"hgvs_p": "p.Pro4407Pro",
"transcript": "NM_201383.3",
"protein_id": "NP_958785.1",
"transcript_support_level": null,
"aa_start": 4407,
"aa_end": null,
"aa_length": 4551,
"cds_start": 13221,
"cds_end": null,
"cds_length": 13656,
"cdna_start": 13330,
"cdna_end": null,
"cdna_length": 14789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13209G>A",
"hgvs_p": "p.Pro4403Pro",
"transcript": "NM_201382.4",
"protein_id": "NP_958784.1",
"transcript_support_level": null,
"aa_start": 4403,
"aa_end": null,
"aa_length": 4547,
"cds_start": 13209,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 13304,
"cdna_end": null,
"cdna_length": 14763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13143G>A",
"hgvs_p": "p.Pro4381Pro",
"transcript": "NM_201379.3",
"protein_id": "NP_958781.1",
"transcript_support_level": null,
"aa_start": 4381,
"aa_end": null,
"aa_length": 4525,
"cds_start": 13143,
"cds_end": null,
"cds_length": 13578,
"cdna_start": 13206,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13140G>A",
"hgvs_p": "p.Pro4380Pro",
"transcript": "ENST00000693060.1",
"protein_id": "ENSP00000510329.1",
"transcript_support_level": null,
"aa_start": 4380,
"aa_end": null,
"aa_length": 4524,
"cds_start": 13140,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 13153,
"cdna_end": null,
"cdna_length": 13588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13113G>A",
"hgvs_p": "p.Pro4371Pro",
"transcript": "NM_201381.3",
"protein_id": "NP_958783.1",
"transcript_support_level": null,
"aa_start": 4371,
"aa_end": null,
"aa_length": 4515,
"cds_start": 13113,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 13220,
"cdna_end": null,
"cdna_length": 14679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.12927G>A",
"hgvs_p": "p.Pro4309Pro",
"transcript": "ENST00000687971.1",
"protein_id": "ENSP00000510788.1",
"transcript_support_level": null,
"aa_start": 4309,
"aa_end": null,
"aa_length": 4453,
"cds_start": 12927,
"cds_end": null,
"cds_length": 13362,
"cdna_start": 13260,
"cdna_end": null,
"cdna_length": 13695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9909G>A",
"hgvs_p": "p.Pro3303Pro",
"transcript": "NM_001410941.1",
"protein_id": "NP_001397870.1",
"transcript_support_level": null,
"aa_start": 3303,
"aa_end": null,
"aa_length": 3447,
"cds_start": 9909,
"cds_end": null,
"cds_length": 10344,
"cdna_start": 9958,
"cdna_end": null,
"cdna_length": 11417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9909G>A",
"hgvs_p": "p.Pro3303Pro",
"transcript": "ENST00000527303.2",
"protein_id": "ENSP00000433982.2",
"transcript_support_level": 3,
"aa_start": 3303,
"aa_end": null,
"aa_length": 3447,
"cds_start": 9909,
"cds_end": null,
"cds_length": 10344,
"cdna_start": 9947,
"cdna_end": null,
"cdna_length": 11406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13635G>A",
"hgvs_p": "p.Pro4545Pro",
"transcript": "XM_005250976.5",
"protein_id": "XP_005251033.1",
"transcript_support_level": null,
"aa_start": 4545,
"aa_end": null,
"aa_length": 4689,
"cds_start": 13635,
"cds_end": null,
"cds_length": 14070,
"cdna_start": 13855,
"cdna_end": null,
"cdna_length": 15314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13608G>A",
"hgvs_p": "p.Pro4536Pro",
"transcript": "XM_047421870.1",
"protein_id": "XP_047277826.1",
"transcript_support_level": null,
"aa_start": 4536,
"aa_end": null,
"aa_length": 4680,
"cds_start": 13608,
"cds_end": null,
"cds_length": 14043,
"cdna_start": 13828,
"cdna_end": null,
"cdna_length": 15287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13305G>A",
"hgvs_p": "p.Pro4435Pro",
"transcript": "XM_006716588.4",
"protein_id": "XP_006716651.1",
"transcript_support_level": null,
"aa_start": 4435,
"aa_end": null,
"aa_length": 4579,
"cds_start": 13305,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 13354,
"cdna_end": null,
"cdna_length": 14813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13278G>A",
"hgvs_p": "p.Pro4426Pro",
"transcript": "XM_047421872.1",
"protein_id": "XP_047277828.1",
"transcript_support_level": null,
"aa_start": 4426,
"aa_end": null,
"aa_length": 4570,
"cds_start": 13278,
"cds_end": null,
"cds_length": 13713,
"cdna_start": 13327,
"cdna_end": null,
"cdna_length": 14786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13236G>A",
"hgvs_p": "p.Pro4412Pro",
"transcript": "XM_005250978.4",
"protein_id": "XP_005251035.1",
"transcript_support_level": null,
"aa_start": 4412,
"aa_end": null,
"aa_length": 4556,
"cds_start": 13236,
"cds_end": null,
"cds_length": 13671,
"cdna_start": 13345,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13224G>A",
"hgvs_p": "p.Pro4408Pro",
"transcript": "XM_005250979.5",
"protein_id": "XP_005251036.1",
"transcript_support_level": null,
"aa_start": 4408,
"aa_end": null,
"aa_length": 4552,
"cds_start": 13224,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 13319,
"cdna_end": null,
"cdna_length": 14778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13224G>A",
"hgvs_p": "p.Pro4408Pro",
"transcript": "XM_005250980.5",
"protein_id": "XP_005251037.1",
"transcript_support_level": null,
"aa_start": 4408,
"aa_end": null,
"aa_length": 4552,
"cds_start": 13224,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 13360,
"cdna_end": null,
"cdna_length": 14819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13224G>A",
"hgvs_p": "p.Pro4408Pro",
"transcript": "XM_011517130.3",
"protein_id": "XP_011515432.1",
"transcript_support_level": null,
"aa_start": 4408,
"aa_end": null,
"aa_length": 4552,
"cds_start": 13224,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 13333,
"cdna_end": null,
"cdna_length": 14792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13209G>A",
"hgvs_p": "p.Pro4403Pro",
"transcript": "XM_047421869.1",
"protein_id": "XP_047277825.1",
"transcript_support_level": null,
"aa_start": 4403,
"aa_end": null,
"aa_length": 4547,
"cds_start": 13209,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 13318,
"cdna_end": null,
"cdna_length": 14777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13197G>A",
"hgvs_p": "p.Pro4399Pro",
"transcript": "XM_047421873.1",
"protein_id": "XP_047277829.1",
"transcript_support_level": null,
"aa_start": 4399,
"aa_end": null,
"aa_length": 4543,
"cds_start": 13197,
"cds_end": null,
"cds_length": 13632,
"cdna_start": 13333,
"cdna_end": null,
"cdna_length": 14792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13197G>A",
"hgvs_p": "p.Pro4399Pro",
"transcript": "XM_047421874.1",
"protein_id": "XP_047277830.1",
"transcript_support_level": null,
"aa_start": 4399,
"aa_end": null,
"aa_length": 4543,
"cds_start": 13197,
"cds_end": null,
"cds_length": 13632,
"cdna_start": 13292,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13182G>A",
"hgvs_p": "p.Pro4394Pro",
"transcript": "XM_005250981.4",
"protein_id": "XP_005251038.1",
"transcript_support_level": null,
"aa_start": 4394,
"aa_end": null,
"aa_length": 4538,
"cds_start": 13182,
"cds_end": null,
"cds_length": 13617,
"cdna_start": 13239,
"cdna_end": null,
"cdna_length": 14698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13158G>A",
"hgvs_p": "p.Pro4386Pro",
"transcript": "XM_005250982.5",
"protein_id": "XP_005251039.1",
"transcript_support_level": null,
"aa_start": 4386,
"aa_end": null,
"aa_length": 4530,
"cds_start": 13158,
"cds_end": null,
"cds_length": 13593,
"cdna_start": 13221,
"cdna_end": null,
"cdna_length": 14680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13155G>A",
"hgvs_p": "p.Pro4385Pro",
"transcript": "XM_006716589.3",
"protein_id": "XP_006716652.1",
"transcript_support_level": null,
"aa_start": 4385,
"aa_end": null,
"aa_length": 4529,
"cds_start": 13155,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 13203,
"cdna_end": null,
"cdna_length": 14662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13155G>A",
"hgvs_p": "p.Pro4385Pro",
"transcript": "XM_006716590.4",
"protein_id": "XP_006716653.1",
"transcript_support_level": null,
"aa_start": 4385,
"aa_end": null,
"aa_length": 4529,
"cds_start": 13155,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 13221,
"cdna_end": null,
"cdna_length": 14680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13155G>A",
"hgvs_p": "p.Pro4385Pro",
"transcript": "XM_047421875.1",
"protein_id": "XP_047277831.1",
"transcript_support_level": null,
"aa_start": 4385,
"aa_end": null,
"aa_length": 4529,
"cds_start": 13155,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 13212,
"cdna_end": null,
"cdna_length": 14671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13140G>A",
"hgvs_p": "p.Pro4380Pro",
"transcript": "XM_005250983.3",
"protein_id": "XP_005251040.1",
"transcript_support_level": null,
"aa_start": 4380,
"aa_end": null,
"aa_length": 4524,
"cds_start": 13140,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 13188,
"cdna_end": null,
"cdna_length": 14647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13140G>A",
"hgvs_p": "p.Pro4380Pro",
"transcript": "XM_011517131.3",
"protein_id": "XP_011515433.1",
"transcript_support_level": null,
"aa_start": 4380,
"aa_end": null,
"aa_length": 4524,
"cds_start": 13140,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 13206,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13131G>A",
"hgvs_p": "p.Pro4377Pro",
"transcript": "XM_047421877.1",
"protein_id": "XP_047277833.1",
"transcript_support_level": null,
"aa_start": 4377,
"aa_end": null,
"aa_length": 4521,
"cds_start": 13131,
"cds_end": null,
"cds_length": 13566,
"cdna_start": 13194,
"cdna_end": null,
"cdna_length": 14653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13128G>A",
"hgvs_p": "p.Pro4376Pro",
"transcript": "XM_005250984.6",
"protein_id": "XP_005251041.1",
"transcript_support_level": null,
"aa_start": 4376,
"aa_end": null,
"aa_length": 4520,
"cds_start": 13128,
"cds_end": null,
"cds_length": 13563,
"cdna_start": 13235,
"cdna_end": null,
"cdna_length": 14694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.13128G>A",
"hgvs_p": "p.Pro4376Pro",
"transcript": "XM_047421878.1",
"protein_id": "XP_047277834.1",
"transcript_support_level": null,
"aa_start": 4376,
"aa_end": null,
"aa_length": 4520,
"cds_start": 13128,
"cds_end": null,
"cds_length": 13563,
"cdna_start": 13176,
"cdna_end": null,
"cdna_length": 14635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.12927G>A",
"hgvs_p": "p.Pro4309Pro",
"transcript": "XM_047421879.1",
"protein_id": "XP_047277835.1",
"transcript_support_level": null,
"aa_start": 4309,
"aa_end": null,
"aa_length": 4453,
"cds_start": 12927,
"cds_end": null,
"cds_length": 13362,
"cdna_start": 13422,
"cdna_end": null,
"cdna_length": 14881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.10239G>A",
"hgvs_p": "p.Pro3413Pro",
"transcript": "XM_047421882.1",
"protein_id": "XP_047277838.1",
"transcript_support_level": null,
"aa_start": 3413,
"aa_end": null,
"aa_length": 3557,
"cds_start": 10239,
"cds_end": null,
"cds_length": 10674,
"cdna_start": 10459,
"cdna_end": null,
"cdna_length": 11918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.10227G>A",
"hgvs_p": "p.Pro3409Pro",
"transcript": "XM_047421884.1",
"protein_id": "XP_047277840.1",
"transcript_support_level": null,
"aa_start": 3409,
"aa_end": null,
"aa_length": 3553,
"cds_start": 10227,
"cds_end": null,
"cds_length": 10662,
"cdna_start": 10447,
"cdna_end": null,
"cdna_length": 11906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9855G>A",
"hgvs_p": "p.Pro3285Pro",
"transcript": "XM_011517132.3",
"protein_id": "XP_011515434.1",
"transcript_support_level": null,
"aa_start": 3285,
"aa_end": null,
"aa_length": 3429,
"cds_start": 9855,
"cds_end": null,
"cds_length": 10290,
"cdna_start": 9964,
"cdna_end": null,
"cdna_length": 11423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9843G>A",
"hgvs_p": "p.Pro3281Pro",
"transcript": "XM_047421880.1",
"protein_id": "XP_047277836.1",
"transcript_support_level": null,
"aa_start": 3281,
"aa_end": null,
"aa_length": 3425,
"cds_start": 9843,
"cds_end": null,
"cds_length": 10278,
"cdna_start": 9952,
"cdna_end": null,
"cdna_length": 11411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9828G>A",
"hgvs_p": "p.Pro3276Pro",
"transcript": "XM_047421881.1",
"protein_id": "XP_047277837.1",
"transcript_support_level": null,
"aa_start": 3276,
"aa_end": null,
"aa_length": 3420,
"cds_start": 9828,
"cds_end": null,
"cds_length": 10263,
"cdna_start": 9937,
"cdna_end": null,
"cdna_length": 11396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9828G>A",
"hgvs_p": "p.Pro3276Pro",
"transcript": "XM_047421886.1",
"protein_id": "XP_047277842.1",
"transcript_support_level": null,
"aa_start": 3276,
"aa_end": null,
"aa_length": 3420,
"cds_start": 9828,
"cds_end": null,
"cds_length": 10263,
"cdna_start": 9964,
"cdna_end": null,
"cdna_length": 11423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9816G>A",
"hgvs_p": "p.Pro3272Pro",
"transcript": "XM_047421887.1",
"protein_id": "XP_047277843.1",
"transcript_support_level": null,
"aa_start": 3272,
"aa_end": null,
"aa_length": 3416,
"cds_start": 9816,
"cds_end": null,
"cds_length": 10251,
"cdna_start": 9952,
"cdna_end": null,
"cdna_length": 11411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9816G>A",
"hgvs_p": "p.Pro3272Pro",
"transcript": "XM_047421888.1",
"protein_id": "XP_047277844.1",
"transcript_support_level": null,
"aa_start": 3272,
"aa_end": null,
"aa_length": 3416,
"cds_start": 9816,
"cds_end": null,
"cds_length": 10251,
"cdna_start": 9911,
"cdna_end": null,
"cdna_length": 11370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9786G>A",
"hgvs_p": "p.Pro3262Pro",
"transcript": "XM_047421889.1",
"protein_id": "XP_047277845.1",
"transcript_support_level": null,
"aa_start": 3262,
"aa_end": null,
"aa_length": 3406,
"cds_start": 9786,
"cds_end": null,
"cds_length": 10221,
"cdna_start": 9843,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9774G>A",
"hgvs_p": "p.Pro3258Pro",
"transcript": "XM_047421890.1",
"protein_id": "XP_047277846.1",
"transcript_support_level": null,
"aa_start": 3258,
"aa_end": null,
"aa_length": 3402,
"cds_start": 9774,
"cds_end": null,
"cds_length": 10209,
"cdna_start": 9831,
"cdna_end": null,
"cdna_length": 11290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9762G>A",
"hgvs_p": "p.Pro3254Pro",
"transcript": "XM_047421891.1",
"protein_id": "XP_047277847.1",
"transcript_support_level": null,
"aa_start": 3254,
"aa_end": null,
"aa_length": 3398,
"cds_start": 9762,
"cds_end": null,
"cds_length": 10197,
"cdna_start": 9825,
"cdna_end": null,
"cdna_length": 11284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9759G>A",
"hgvs_p": "p.Pro3253Pro",
"transcript": "XM_047421892.1",
"protein_id": "XP_047277848.1",
"transcript_support_level": null,
"aa_start": 3253,
"aa_end": null,
"aa_length": 3397,
"cds_start": 9759,
"cds_end": null,
"cds_length": 10194,
"cdna_start": 9807,
"cdna_end": null,
"cdna_length": 11266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9750G>A",
"hgvs_p": "p.Pro3250Pro",
"transcript": "XM_047421893.1",
"protein_id": "XP_047277849.1",
"transcript_support_level": null,
"aa_start": 3250,
"aa_end": null,
"aa_length": 3394,
"cds_start": 9750,
"cds_end": null,
"cds_length": 10185,
"cdna_start": 9813,
"cdna_end": null,
"cdna_length": 11272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9747G>A",
"hgvs_p": "p.Pro3249Pro",
"transcript": "XM_047421895.1",
"protein_id": "XP_047277851.1",
"transcript_support_level": null,
"aa_start": 3249,
"aa_end": null,
"aa_length": 3393,
"cds_start": 9747,
"cds_end": null,
"cds_length": 10182,
"cdna_start": 9795,
"cdna_end": null,
"cdna_length": 11254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"dbsnp": "rs200338374",
"frequency_reference_population": 0.000106217776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 171,
"gnomad_exomes_af": 0.0000898729,
"gnomad_genomes_af": 0.000262664,
"gnomad_exomes_ac": 131,
"gnomad_genomes_ac": 40,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -8.372,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000345136.8",
"gene_symbol": "PLEC",
"hgnc_id": 9069,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.13209G>A",
"hgvs_p": "p.Pro4403Pro"
}
],
"clinvar_disease": " Ogna type, with muscular dystrophy, with pyloric atresia,Autosomal recessive limb-girdle muscular dystrophy type 2Q,Epidermolysis bullosa simplex,Epidermolysis bullosa simplex 5B,Epidermolysis bullosa simplex 5C,Epidermolysis bullosa simplex with nail dystrophy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3",
"phenotype_combined": "not provided|Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5C, with pyloric atresia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}