← 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: 8-143924700-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143924700&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143924700,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000345136.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5229G>A",
"hgvs_p": "p.Ala1743Ala",
"transcript": "NM_201384.3",
"protein_id": "NP_958786.1",
"transcript_support_level": null,
"aa_start": 1743,
"aa_end": null,
"aa_length": 4547,
"cds_start": 5229,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 5365,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "ENST00000345136.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5229G>A",
"hgvs_p": "p.Ala1743Ala",
"transcript": "ENST00000345136.8",
"protein_id": "ENSP00000344848.3",
"transcript_support_level": 1,
"aa_start": 1743,
"aa_end": null,
"aa_length": 4547,
"cds_start": 5229,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 5365,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "NM_201384.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5187G>A",
"hgvs_p": "p.Ala1729Ala",
"transcript": "NM_201378.4",
"protein_id": "NP_958780.1",
"transcript_support_level": null,
"aa_start": 1729,
"aa_end": null,
"aa_length": 4533,
"cds_start": 5187,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 5244,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "ENST00000356346.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5187G>A",
"hgvs_p": "p.Ala1729Ala",
"transcript": "ENST00000356346.7",
"protein_id": "ENSP00000348702.3",
"transcript_support_level": 1,
"aa_start": 1729,
"aa_end": null,
"aa_length": 4533,
"cds_start": 5187,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 5244,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "NM_201378.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5640G>A",
"hgvs_p": "p.Ala1880Ala",
"transcript": "ENST00000322810.8",
"protein_id": "ENSP00000323856.4",
"transcript_support_level": 1,
"aa_start": 1880,
"aa_end": null,
"aa_length": 4684,
"cds_start": 5640,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 5810,
"cdna_end": null,
"cdna_length": 15249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5310G>A",
"hgvs_p": "p.Ala1770Ala",
"transcript": "ENST00000436759.6",
"protein_id": "ENSP00000388180.2",
"transcript_support_level": 1,
"aa_start": 1770,
"aa_end": null,
"aa_length": 4574,
"cds_start": 5310,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 5348,
"cdna_end": null,
"cdna_length": 14787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5241G>A",
"hgvs_p": "p.Ala1747Ala",
"transcript": "ENST00000357649.6",
"protein_id": "ENSP00000350277.2",
"transcript_support_level": 1,
"aa_start": 1747,
"aa_end": null,
"aa_length": 4551,
"cds_start": 5241,
"cds_end": null,
"cds_length": 13656,
"cdna_start": 5250,
"cdna_end": null,
"cdna_length": 14689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5229G>A",
"hgvs_p": "p.Ala1743Ala",
"transcript": "ENST00000354589.7",
"protein_id": "ENSP00000346602.3",
"transcript_support_level": 1,
"aa_start": 1743,
"aa_end": null,
"aa_length": 4547,
"cds_start": 5229,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 5297,
"cdna_end": null,
"cdna_length": 14736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5163G>A",
"hgvs_p": "p.Ala1721Ala",
"transcript": "ENST00000354958.6",
"protein_id": "ENSP00000347044.2",
"transcript_support_level": 1,
"aa_start": 1721,
"aa_end": null,
"aa_length": 4525,
"cds_start": 5163,
"cds_end": null,
"cds_length": 13578,
"cdna_start": 5312,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5133G>A",
"hgvs_p": "p.Ala1711Ala",
"transcript": "ENST00000398774.6",
"protein_id": "ENSP00000381756.2",
"transcript_support_level": 1,
"aa_start": 1711,
"aa_end": null,
"aa_length": 4515,
"cds_start": 5133,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 5207,
"cdna_end": null,
"cdna_length": 14646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5640G>A",
"hgvs_p": "p.Ala1880Ala",
"transcript": "NM_201380.4",
"protein_id": "NP_958782.1",
"transcript_support_level": null,
"aa_start": 1880,
"aa_end": null,
"aa_length": 4684,
"cds_start": 5640,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 5860,
"cdna_end": null,
"cdna_length": 15299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5361G>A",
"hgvs_p": "p.Ala1787Ala",
"transcript": "ENST00000528025.6",
"protein_id": "ENSP00000437303.2",
"transcript_support_level": 5,
"aa_start": 1787,
"aa_end": null,
"aa_length": 4591,
"cds_start": 5361,
"cds_end": null,
"cds_length": 13776,
"cdna_start": 5367,
"cdna_end": null,
"cdna_length": 13782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5310G>A",
"hgvs_p": "p.Ala1770Ala",
"transcript": "NM_000445.5",
"protein_id": "NP_000436.2",
"transcript_support_level": null,
"aa_start": 1770,
"aa_end": null,
"aa_length": 4574,
"cds_start": 5310,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 5359,
"cdna_end": null,
"cdna_length": 14798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5298G>A",
"hgvs_p": "p.Ala1766Ala",
"transcript": "ENST00000527096.5",
"protein_id": "ENSP00000434583.1",
"transcript_support_level": 5,
"aa_start": 1766,
"aa_end": null,
"aa_length": 4570,
"cds_start": 5298,
"cds_end": null,
"cds_length": 13713,
"cdna_start": 5298,
"cdna_end": null,
"cdna_length": 13713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5280G>A",
"hgvs_p": "p.Ala1760Ala",
"transcript": "ENST00000685198.1",
"protein_id": "ENSP00000510528.1",
"transcript_support_level": null,
"aa_start": 1760,
"aa_end": null,
"aa_length": 4564,
"cds_start": 5280,
"cds_end": null,
"cds_length": 13695,
"cdna_start": 5322,
"cdna_end": null,
"cdna_length": 13737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5241G>A",
"hgvs_p": "p.Ala1747Ala",
"transcript": "NM_201383.3",
"protein_id": "NP_958785.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 4551,
"cds_start": 5241,
"cds_end": null,
"cds_length": 13656,
"cdna_start": 5350,
"cdna_end": null,
"cdna_length": 14789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5229G>A",
"hgvs_p": "p.Ala1743Ala",
"transcript": "NM_201382.4",
"protein_id": "NP_958784.1",
"transcript_support_level": null,
"aa_start": 1743,
"aa_end": null,
"aa_length": 4547,
"cds_start": 5229,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 5324,
"cdna_end": null,
"cdna_length": 14763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5163G>A",
"hgvs_p": "p.Ala1721Ala",
"transcript": "NM_201379.3",
"protein_id": "NP_958781.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 4525,
"cds_start": 5163,
"cds_end": null,
"cds_length": 13578,
"cdna_start": 5226,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5160G>A",
"hgvs_p": "p.Ala1720Ala",
"transcript": "ENST00000693060.1",
"protein_id": "ENSP00000510329.1",
"transcript_support_level": null,
"aa_start": 1720,
"aa_end": null,
"aa_length": 4524,
"cds_start": 5160,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 5173,
"cdna_end": null,
"cdna_length": 13588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5133G>A",
"hgvs_p": "p.Ala1711Ala",
"transcript": "NM_201381.3",
"protein_id": "NP_958783.1",
"transcript_support_level": null,
"aa_start": 1711,
"aa_end": null,
"aa_length": 4515,
"cds_start": 5133,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 14679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4947G>A",
"hgvs_p": "p.Ala1649Ala",
"transcript": "ENST00000687971.1",
"protein_id": "ENSP00000510788.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 4453,
"cds_start": 4947,
"cds_end": null,
"cds_length": 13362,
"cdna_start": 5280,
"cdna_end": null,
"cdna_length": 13695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5655G>A",
"hgvs_p": "p.Ala1885Ala",
"transcript": "XM_005250976.5",
"protein_id": "XP_005251033.1",
"transcript_support_level": null,
"aa_start": 1885,
"aa_end": null,
"aa_length": 4689,
"cds_start": 5655,
"cds_end": null,
"cds_length": 14070,
"cdna_start": 5875,
"cdna_end": null,
"cdna_length": 15314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5628G>A",
"hgvs_p": "p.Ala1876Ala",
"transcript": "XM_047421870.1",
"protein_id": "XP_047277826.1",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 4680,
"cds_start": 5628,
"cds_end": null,
"cds_length": 14043,
"cdna_start": 5848,
"cdna_end": null,
"cdna_length": 15287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5325G>A",
"hgvs_p": "p.Ala1775Ala",
"transcript": "XM_006716588.4",
"protein_id": "XP_006716651.1",
"transcript_support_level": null,
"aa_start": 1775,
"aa_end": null,
"aa_length": 4579,
"cds_start": 5325,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 5374,
"cdna_end": null,
"cdna_length": 14813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5298G>A",
"hgvs_p": "p.Ala1766Ala",
"transcript": "XM_047421872.1",
"protein_id": "XP_047277828.1",
"transcript_support_level": null,
"aa_start": 1766,
"aa_end": null,
"aa_length": 4570,
"cds_start": 5298,
"cds_end": null,
"cds_length": 13713,
"cdna_start": 5347,
"cdna_end": null,
"cdna_length": 14786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5256G>A",
"hgvs_p": "p.Ala1752Ala",
"transcript": "XM_005250978.4",
"protein_id": "XP_005251035.1",
"transcript_support_level": null,
"aa_start": 1752,
"aa_end": null,
"aa_length": 4556,
"cds_start": 5256,
"cds_end": null,
"cds_length": 13671,
"cdna_start": 5365,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5244G>A",
"hgvs_p": "p.Ala1748Ala",
"transcript": "XM_005250979.5",
"protein_id": "XP_005251036.1",
"transcript_support_level": null,
"aa_start": 1748,
"aa_end": null,
"aa_length": 4552,
"cds_start": 5244,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 5339,
"cdna_end": null,
"cdna_length": 14778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5244G>A",
"hgvs_p": "p.Ala1748Ala",
"transcript": "XM_005250980.5",
"protein_id": "XP_005251037.1",
"transcript_support_level": null,
"aa_start": 1748,
"aa_end": null,
"aa_length": 4552,
"cds_start": 5244,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 5380,
"cdna_end": null,
"cdna_length": 14819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5244G>A",
"hgvs_p": "p.Ala1748Ala",
"transcript": "XM_011517130.3",
"protein_id": "XP_011515432.1",
"transcript_support_level": null,
"aa_start": 1748,
"aa_end": null,
"aa_length": 4552,
"cds_start": 5244,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 5353,
"cdna_end": null,
"cdna_length": 14792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5229G>A",
"hgvs_p": "p.Ala1743Ala",
"transcript": "XM_047421869.1",
"protein_id": "XP_047277825.1",
"transcript_support_level": null,
"aa_start": 1743,
"aa_end": null,
"aa_length": 4547,
"cds_start": 5229,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 5338,
"cdna_end": null,
"cdna_length": 14777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5217G>A",
"hgvs_p": "p.Ala1739Ala",
"transcript": "XM_047421873.1",
"protein_id": "XP_047277829.1",
"transcript_support_level": null,
"aa_start": 1739,
"aa_end": null,
"aa_length": 4543,
"cds_start": 5217,
"cds_end": null,
"cds_length": 13632,
"cdna_start": 5353,
"cdna_end": null,
"cdna_length": 14792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5217G>A",
"hgvs_p": "p.Ala1739Ala",
"transcript": "XM_047421874.1",
"protein_id": "XP_047277830.1",
"transcript_support_level": null,
"aa_start": 1739,
"aa_end": null,
"aa_length": 4543,
"cds_start": 5217,
"cds_end": null,
"cds_length": 13632,
"cdna_start": 5312,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5202G>A",
"hgvs_p": "p.Ala1734Ala",
"transcript": "XM_005250981.4",
"protein_id": "XP_005251038.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 4538,
"cds_start": 5202,
"cds_end": null,
"cds_length": 13617,
"cdna_start": 5259,
"cdna_end": null,
"cdna_length": 14698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5178G>A",
"hgvs_p": "p.Ala1726Ala",
"transcript": "XM_005250982.5",
"protein_id": "XP_005251039.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 4530,
"cds_start": 5178,
"cds_end": null,
"cds_length": 13593,
"cdna_start": 5241,
"cdna_end": null,
"cdna_length": 14680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5175G>A",
"hgvs_p": "p.Ala1725Ala",
"transcript": "XM_006716589.3",
"protein_id": "XP_006716652.1",
"transcript_support_level": null,
"aa_start": 1725,
"aa_end": null,
"aa_length": 4529,
"cds_start": 5175,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 5223,
"cdna_end": null,
"cdna_length": 14662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5175G>A",
"hgvs_p": "p.Ala1725Ala",
"transcript": "XM_006716590.4",
"protein_id": "XP_006716653.1",
"transcript_support_level": null,
"aa_start": 1725,
"aa_end": null,
"aa_length": 4529,
"cds_start": 5175,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 5241,
"cdna_end": null,
"cdna_length": 14680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5175G>A",
"hgvs_p": "p.Ala1725Ala",
"transcript": "XM_047421875.1",
"protein_id": "XP_047277831.1",
"transcript_support_level": null,
"aa_start": 1725,
"aa_end": null,
"aa_length": 4529,
"cds_start": 5175,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 5232,
"cdna_end": null,
"cdna_length": 14671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5160G>A",
"hgvs_p": "p.Ala1720Ala",
"transcript": "XM_005250983.3",
"protein_id": "XP_005251040.1",
"transcript_support_level": null,
"aa_start": 1720,
"aa_end": null,
"aa_length": 4524,
"cds_start": 5160,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 5208,
"cdna_end": null,
"cdna_length": 14647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5160G>A",
"hgvs_p": "p.Ala1720Ala",
"transcript": "XM_011517131.3",
"protein_id": "XP_011515433.1",
"transcript_support_level": null,
"aa_start": 1720,
"aa_end": null,
"aa_length": 4524,
"cds_start": 5160,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 5226,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5151G>A",
"hgvs_p": "p.Ala1717Ala",
"transcript": "XM_047421877.1",
"protein_id": "XP_047277833.1",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 4521,
"cds_start": 5151,
"cds_end": null,
"cds_length": 13566,
"cdna_start": 5214,
"cdna_end": null,
"cdna_length": 14653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5148G>A",
"hgvs_p": "p.Ala1716Ala",
"transcript": "XM_005250984.6",
"protein_id": "XP_005251041.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 4520,
"cds_start": 5148,
"cds_end": null,
"cds_length": 13563,
"cdna_start": 5255,
"cdna_end": null,
"cdna_length": 14694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.5148G>A",
"hgvs_p": "p.Ala1716Ala",
"transcript": "XM_047421878.1",
"protein_id": "XP_047277834.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 4520,
"cds_start": 5148,
"cds_end": null,
"cds_length": 13563,
"cdna_start": 5196,
"cdna_end": null,
"cdna_length": 14635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4947G>A",
"hgvs_p": "p.Ala1649Ala",
"transcript": "XM_047421879.1",
"protein_id": "XP_047277835.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 4453,
"cds_start": 4947,
"cds_end": null,
"cds_length": 13362,
"cdna_start": 5442,
"cdna_end": null,
"cdna_length": 14881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4125+2084G>A",
"hgvs_p": null,
"transcript": "NM_001410941.1",
"protein_id": "NP_001397870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3447,
"cds_start": -4,
"cds_end": null,
"cds_length": 10344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4125+2084G>A",
"hgvs_p": null,
"transcript": "ENST00000527303.2",
"protein_id": "ENSP00000433982.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 3447,
"cds_start": -4,
"cds_end": null,
"cds_length": 10344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4455+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421882.1",
"protein_id": "XP_047277838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3557,
"cds_start": -4,
"cds_end": null,
"cds_length": 10674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4443+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421884.1",
"protein_id": "XP_047277840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3553,
"cds_start": -4,
"cds_end": null,
"cds_length": 10662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4071+2084G>A",
"hgvs_p": null,
"transcript": "XM_011517132.3",
"protein_id": "XP_011515434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3429,
"cds_start": -4,
"cds_end": null,
"cds_length": 10290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4059+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421880.1",
"protein_id": "XP_047277836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3425,
"cds_start": -4,
"cds_end": null,
"cds_length": 10278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4044+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421881.1",
"protein_id": "XP_047277837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3420,
"cds_start": -4,
"cds_end": null,
"cds_length": 10263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4044+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421886.1",
"protein_id": "XP_047277842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3420,
"cds_start": -4,
"cds_end": null,
"cds_length": 10263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4032+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421887.1",
"protein_id": "XP_047277843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3416,
"cds_start": -4,
"cds_end": null,
"cds_length": 10251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4032+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421888.1",
"protein_id": "XP_047277844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3416,
"cds_start": -4,
"cds_end": null,
"cds_length": 10251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4002+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421889.1",
"protein_id": "XP_047277845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3406,
"cds_start": -4,
"cds_end": null,
"cds_length": 10221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.3990+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421890.1",
"protein_id": "XP_047277846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3402,
"cds_start": -4,
"cds_end": null,
"cds_length": 10209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.3978+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421891.1",
"protein_id": "XP_047277847.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3398,
"cds_start": -4,
"cds_end": null,
"cds_length": 10197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.3975+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421892.1",
"protein_id": "XP_047277848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3397,
"cds_start": -4,
"cds_end": null,
"cds_length": 10194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.3966+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421893.1",
"protein_id": "XP_047277849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3394,
"cds_start": -4,
"cds_end": null,
"cds_length": 10185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.3963+2084G>A",
"hgvs_p": null,
"transcript": "XM_047421895.1",
"protein_id": "XP_047277851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3393,
"cds_start": -4,
"cds_end": null,
"cds_length": 10182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"dbsnp": "rs140406501",
"frequency_reference_population": 0.026362635,
"hom_count_reference_population": 782,
"allele_count_reference_population": 40459,
"gnomad_exomes_af": 0.0265099,
"gnomad_genomes_af": 0.0250243,
"gnomad_exomes_ac": 36651,
"gnomad_genomes_ac": 3808,
"gnomad_exomes_homalt": 688,
"gnomad_genomes_homalt": 94,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"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": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.958,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000345136.8",
"gene_symbol": "PLEC",
"hgnc_id": 9069,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5229G>A",
"hgvs_p": "p.Ala1743Ala"
}
],
"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,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"phenotype_combined": "not specified|Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5B, with muscular dystrophy;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex with nail dystrophy|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}