← 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: 8-143917337-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143917337&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143917337,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_201380.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12484C>G",
"hgvs_p": "p.Leu4162Val",
"transcript": "NM_201384.3",
"protein_id": "NP_958786.1",
"transcript_support_level": null,
"aa_start": 4162,
"aa_end": null,
"aa_length": 4547,
"cds_start": 12484,
"cds_end": null,
"cds_length": 13644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345136.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201384.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12484C>G",
"hgvs_p": "p.Leu4162Val",
"transcript": "ENST00000345136.8",
"protein_id": "ENSP00000344848.3",
"transcript_support_level": 1,
"aa_start": 4162,
"aa_end": null,
"aa_length": 4547,
"cds_start": 12484,
"cds_end": null,
"cds_length": 13644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201384.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345136.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12442C>G",
"hgvs_p": "p.Leu4148Val",
"transcript": "NM_201378.4",
"protein_id": "NP_958780.1",
"transcript_support_level": null,
"aa_start": 4148,
"aa_end": null,
"aa_length": 4533,
"cds_start": 12442,
"cds_end": null,
"cds_length": 13602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000356346.7",
"biotype": "protein_coding",
"feature": "NM_201378.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12442C>G",
"hgvs_p": "p.Leu4148Val",
"transcript": "ENST00000356346.7",
"protein_id": "ENSP00000348702.3",
"transcript_support_level": 1,
"aa_start": 4148,
"aa_end": null,
"aa_length": 4533,
"cds_start": 12442,
"cds_end": null,
"cds_length": 13602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_201378.4",
"biotype": "protein_coding",
"feature": "ENST00000356346.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12895C>G",
"hgvs_p": "p.Leu4299Val",
"transcript": "ENST00000322810.8",
"protein_id": "ENSP00000323856.4",
"transcript_support_level": 1,
"aa_start": 4299,
"aa_end": null,
"aa_length": 4684,
"cds_start": 12895,
"cds_end": null,
"cds_length": 14055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322810.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12565C>G",
"hgvs_p": "p.Leu4189Val",
"transcript": "ENST00000436759.6",
"protein_id": "ENSP00000388180.2",
"transcript_support_level": 1,
"aa_start": 4189,
"aa_end": null,
"aa_length": 4574,
"cds_start": 12565,
"cds_end": null,
"cds_length": 13725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436759.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12496C>G",
"hgvs_p": "p.Leu4166Val",
"transcript": "ENST00000357649.6",
"protein_id": "ENSP00000350277.2",
"transcript_support_level": 1,
"aa_start": 4166,
"aa_end": null,
"aa_length": 4551,
"cds_start": 12496,
"cds_end": null,
"cds_length": 13656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357649.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12484C>G",
"hgvs_p": "p.Leu4162Val",
"transcript": "ENST00000354589.7",
"protein_id": "ENSP00000346602.3",
"transcript_support_level": 1,
"aa_start": 4162,
"aa_end": null,
"aa_length": 4547,
"cds_start": 12484,
"cds_end": null,
"cds_length": 13644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354589.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12418C>G",
"hgvs_p": "p.Leu4140Val",
"transcript": "ENST00000354958.6",
"protein_id": "ENSP00000347044.2",
"transcript_support_level": 1,
"aa_start": 4140,
"aa_end": null,
"aa_length": 4525,
"cds_start": 12418,
"cds_end": null,
"cds_length": 13578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354958.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12388C>G",
"hgvs_p": "p.Leu4130Val",
"transcript": "ENST00000398774.6",
"protein_id": "ENSP00000381756.2",
"transcript_support_level": 1,
"aa_start": 4130,
"aa_end": null,
"aa_length": 4515,
"cds_start": 12388,
"cds_end": null,
"cds_length": 13548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398774.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12895C>G",
"hgvs_p": "p.Leu4299Val",
"transcript": "NM_201380.4",
"protein_id": "NP_958782.1",
"transcript_support_level": null,
"aa_start": 4299,
"aa_end": null,
"aa_length": 4684,
"cds_start": 12895,
"cds_end": null,
"cds_length": 14055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201380.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12616C>G",
"hgvs_p": "p.Leu4206Val",
"transcript": "ENST00000528025.6",
"protein_id": "ENSP00000437303.2",
"transcript_support_level": 5,
"aa_start": 4206,
"aa_end": null,
"aa_length": 4591,
"cds_start": 12616,
"cds_end": null,
"cds_length": 13776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528025.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12565C>G",
"hgvs_p": "p.Leu4189Val",
"transcript": "NM_000445.5",
"protein_id": "NP_000436.2",
"transcript_support_level": null,
"aa_start": 4189,
"aa_end": null,
"aa_length": 4574,
"cds_start": 12565,
"cds_end": null,
"cds_length": 13725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000445.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12553C>G",
"hgvs_p": "p.Leu4185Val",
"transcript": "ENST00000527096.5",
"protein_id": "ENSP00000434583.1",
"transcript_support_level": 5,
"aa_start": 4185,
"aa_end": null,
"aa_length": 4570,
"cds_start": 12553,
"cds_end": null,
"cds_length": 13713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527096.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12535C>G",
"hgvs_p": "p.Leu4179Val",
"transcript": "ENST00000685198.1",
"protein_id": "ENSP00000510528.1",
"transcript_support_level": null,
"aa_start": 4179,
"aa_end": null,
"aa_length": 4564,
"cds_start": 12535,
"cds_end": null,
"cds_length": 13695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685198.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12496C>G",
"hgvs_p": "p.Leu4166Val",
"transcript": "NM_201383.3",
"protein_id": "NP_958785.1",
"transcript_support_level": null,
"aa_start": 4166,
"aa_end": null,
"aa_length": 4551,
"cds_start": 12496,
"cds_end": null,
"cds_length": 13656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201383.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12484C>G",
"hgvs_p": "p.Leu4162Val",
"transcript": "NM_201382.4",
"protein_id": "NP_958784.1",
"transcript_support_level": null,
"aa_start": 4162,
"aa_end": null,
"aa_length": 4547,
"cds_start": 12484,
"cds_end": null,
"cds_length": 13644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201382.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12418C>G",
"hgvs_p": "p.Leu4140Val",
"transcript": "NM_201379.3",
"protein_id": "NP_958781.1",
"transcript_support_level": null,
"aa_start": 4140,
"aa_end": null,
"aa_length": 4525,
"cds_start": 12418,
"cds_end": null,
"cds_length": 13578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201379.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12415C>G",
"hgvs_p": "p.Leu4139Val",
"transcript": "ENST00000693060.1",
"protein_id": "ENSP00000510329.1",
"transcript_support_level": null,
"aa_start": 4139,
"aa_end": null,
"aa_length": 4524,
"cds_start": 12415,
"cds_end": null,
"cds_length": 13575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693060.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12388C>G",
"hgvs_p": "p.Leu4130Val",
"transcript": "NM_201381.3",
"protein_id": "NP_958783.1",
"transcript_support_level": null,
"aa_start": 4130,
"aa_end": null,
"aa_length": 4515,
"cds_start": 12388,
"cds_end": null,
"cds_length": 13548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201381.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12202C>G",
"hgvs_p": "p.Leu4068Val",
"transcript": "ENST00000687971.1",
"protein_id": "ENSP00000510788.1",
"transcript_support_level": null,
"aa_start": 4068,
"aa_end": null,
"aa_length": 4453,
"cds_start": 12202,
"cds_end": null,
"cds_length": 13362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687971.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9184C>G",
"hgvs_p": "p.Leu3062Val",
"transcript": "NM_001410941.1",
"protein_id": "NP_001397870.1",
"transcript_support_level": null,
"aa_start": 3062,
"aa_end": null,
"aa_length": 3447,
"cds_start": 9184,
"cds_end": null,
"cds_length": 10344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410941.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9184C>G",
"hgvs_p": "p.Leu3062Val",
"transcript": "ENST00000527303.2",
"protein_id": "ENSP00000433982.2",
"transcript_support_level": 3,
"aa_start": 3062,
"aa_end": null,
"aa_length": 3447,
"cds_start": 9184,
"cds_end": null,
"cds_length": 10344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527303.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9091C>G",
"hgvs_p": "p.Leu3031Val",
"transcript": "ENST00000915284.1",
"protein_id": "ENSP00000585343.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3416,
"cds_start": 9091,
"cds_end": null,
"cds_length": 10251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915284.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5176C>G",
"hgvs_p": "p.Leu1726Val",
"transcript": "ENST00000915283.1",
"protein_id": "ENSP00000585342.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 2111,
"cds_start": 5176,
"cds_end": null,
"cds_length": 6336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915283.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12910C>G",
"hgvs_p": "p.Leu4304Val",
"transcript": "XM_005250976.5",
"protein_id": "XP_005251033.1",
"transcript_support_level": null,
"aa_start": 4304,
"aa_end": null,
"aa_length": 4689,
"cds_start": 12910,
"cds_end": null,
"cds_length": 14070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250976.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12883C>G",
"hgvs_p": "p.Leu4295Val",
"transcript": "XM_047421870.1",
"protein_id": "XP_047277826.1",
"transcript_support_level": null,
"aa_start": 4295,
"aa_end": null,
"aa_length": 4680,
"cds_start": 12883,
"cds_end": null,
"cds_length": 14043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421870.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12580C>G",
"hgvs_p": "p.Leu4194Val",
"transcript": "XM_006716588.4",
"protein_id": "XP_006716651.1",
"transcript_support_level": null,
"aa_start": 4194,
"aa_end": null,
"aa_length": 4579,
"cds_start": 12580,
"cds_end": null,
"cds_length": 13740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716588.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12553C>G",
"hgvs_p": "p.Leu4185Val",
"transcript": "XM_047421872.1",
"protein_id": "XP_047277828.1",
"transcript_support_level": null,
"aa_start": 4185,
"aa_end": null,
"aa_length": 4570,
"cds_start": 12553,
"cds_end": null,
"cds_length": 13713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421872.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12511C>G",
"hgvs_p": "p.Leu4171Val",
"transcript": "XM_005250978.4",
"protein_id": "XP_005251035.1",
"transcript_support_level": null,
"aa_start": 4171,
"aa_end": null,
"aa_length": 4556,
"cds_start": 12511,
"cds_end": null,
"cds_length": 13671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250978.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12499C>G",
"hgvs_p": "p.Leu4167Val",
"transcript": "XM_005250979.5",
"protein_id": "XP_005251036.1",
"transcript_support_level": null,
"aa_start": 4167,
"aa_end": null,
"aa_length": 4552,
"cds_start": 12499,
"cds_end": null,
"cds_length": 13659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250979.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12499C>G",
"hgvs_p": "p.Leu4167Val",
"transcript": "XM_005250980.5",
"protein_id": "XP_005251037.1",
"transcript_support_level": null,
"aa_start": 4167,
"aa_end": null,
"aa_length": 4552,
"cds_start": 12499,
"cds_end": null,
"cds_length": 13659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250980.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12499C>G",
"hgvs_p": "p.Leu4167Val",
"transcript": "XM_011517130.3",
"protein_id": "XP_011515432.1",
"transcript_support_level": null,
"aa_start": 4167,
"aa_end": null,
"aa_length": 4552,
"cds_start": 12499,
"cds_end": null,
"cds_length": 13659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517130.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12484C>G",
"hgvs_p": "p.Leu4162Val",
"transcript": "XM_047421869.1",
"protein_id": "XP_047277825.1",
"transcript_support_level": null,
"aa_start": 4162,
"aa_end": null,
"aa_length": 4547,
"cds_start": 12484,
"cds_end": null,
"cds_length": 13644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421869.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12472C>G",
"hgvs_p": "p.Leu4158Val",
"transcript": "XM_047421873.1",
"protein_id": "XP_047277829.1",
"transcript_support_level": null,
"aa_start": 4158,
"aa_end": null,
"aa_length": 4543,
"cds_start": 12472,
"cds_end": null,
"cds_length": 13632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421873.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12472C>G",
"hgvs_p": "p.Leu4158Val",
"transcript": "XM_047421874.1",
"protein_id": "XP_047277830.1",
"transcript_support_level": null,
"aa_start": 4158,
"aa_end": null,
"aa_length": 4543,
"cds_start": 12472,
"cds_end": null,
"cds_length": 13632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421874.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12457C>G",
"hgvs_p": "p.Leu4153Val",
"transcript": "XM_005250981.4",
"protein_id": "XP_005251038.1",
"transcript_support_level": null,
"aa_start": 4153,
"aa_end": null,
"aa_length": 4538,
"cds_start": 12457,
"cds_end": null,
"cds_length": 13617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250981.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12433C>G",
"hgvs_p": "p.Leu4145Val",
"transcript": "XM_005250982.5",
"protein_id": "XP_005251039.1",
"transcript_support_level": null,
"aa_start": 4145,
"aa_end": null,
"aa_length": 4530,
"cds_start": 12433,
"cds_end": null,
"cds_length": 13593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250982.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12430C>G",
"hgvs_p": "p.Leu4144Val",
"transcript": "XM_006716589.3",
"protein_id": "XP_006716652.1",
"transcript_support_level": null,
"aa_start": 4144,
"aa_end": null,
"aa_length": 4529,
"cds_start": 12430,
"cds_end": null,
"cds_length": 13590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716589.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12430C>G",
"hgvs_p": "p.Leu4144Val",
"transcript": "XM_006716590.4",
"protein_id": "XP_006716653.1",
"transcript_support_level": null,
"aa_start": 4144,
"aa_end": null,
"aa_length": 4529,
"cds_start": 12430,
"cds_end": null,
"cds_length": 13590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716590.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12430C>G",
"hgvs_p": "p.Leu4144Val",
"transcript": "XM_047421875.1",
"protein_id": "XP_047277831.1",
"transcript_support_level": null,
"aa_start": 4144,
"aa_end": null,
"aa_length": 4529,
"cds_start": 12430,
"cds_end": null,
"cds_length": 13590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421875.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12415C>G",
"hgvs_p": "p.Leu4139Val",
"transcript": "XM_005250983.3",
"protein_id": "XP_005251040.1",
"transcript_support_level": null,
"aa_start": 4139,
"aa_end": null,
"aa_length": 4524,
"cds_start": 12415,
"cds_end": null,
"cds_length": 13575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250983.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12415C>G",
"hgvs_p": "p.Leu4139Val",
"transcript": "XM_011517131.3",
"protein_id": "XP_011515433.1",
"transcript_support_level": null,
"aa_start": 4139,
"aa_end": null,
"aa_length": 4524,
"cds_start": 12415,
"cds_end": null,
"cds_length": 13575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517131.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12406C>G",
"hgvs_p": "p.Leu4136Val",
"transcript": "XM_047421877.1",
"protein_id": "XP_047277833.1",
"transcript_support_level": null,
"aa_start": 4136,
"aa_end": null,
"aa_length": 4521,
"cds_start": 12406,
"cds_end": null,
"cds_length": 13566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421877.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12403C>G",
"hgvs_p": "p.Leu4135Val",
"transcript": "XM_005250984.6",
"protein_id": "XP_005251041.1",
"transcript_support_level": null,
"aa_start": 4135,
"aa_end": null,
"aa_length": 4520,
"cds_start": 12403,
"cds_end": null,
"cds_length": 13563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250984.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12403C>G",
"hgvs_p": "p.Leu4135Val",
"transcript": "XM_047421878.1",
"protein_id": "XP_047277834.1",
"transcript_support_level": null,
"aa_start": 4135,
"aa_end": null,
"aa_length": 4520,
"cds_start": 12403,
"cds_end": null,
"cds_length": 13563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421878.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.12202C>G",
"hgvs_p": "p.Leu4068Val",
"transcript": "XM_047421879.1",
"protein_id": "XP_047277835.1",
"transcript_support_level": null,
"aa_start": 4068,
"aa_end": null,
"aa_length": 4453,
"cds_start": 12202,
"cds_end": null,
"cds_length": 13362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421879.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9514C>G",
"hgvs_p": "p.Leu3172Val",
"transcript": "XM_047421882.1",
"protein_id": "XP_047277838.1",
"transcript_support_level": null,
"aa_start": 3172,
"aa_end": null,
"aa_length": 3557,
"cds_start": 9514,
"cds_end": null,
"cds_length": 10674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421882.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9502C>G",
"hgvs_p": "p.Leu3168Val",
"transcript": "XM_047421884.1",
"protein_id": "XP_047277840.1",
"transcript_support_level": null,
"aa_start": 3168,
"aa_end": null,
"aa_length": 3553,
"cds_start": 9502,
"cds_end": null,
"cds_length": 10662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421884.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9130C>G",
"hgvs_p": "p.Leu3044Val",
"transcript": "XM_011517132.3",
"protein_id": "XP_011515434.1",
"transcript_support_level": null,
"aa_start": 3044,
"aa_end": null,
"aa_length": 3429,
"cds_start": 9130,
"cds_end": null,
"cds_length": 10290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517132.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9118C>G",
"hgvs_p": "p.Leu3040Val",
"transcript": "XM_047421880.1",
"protein_id": "XP_047277836.1",
"transcript_support_level": null,
"aa_start": 3040,
"aa_end": null,
"aa_length": 3425,
"cds_start": 9118,
"cds_end": null,
"cds_length": 10278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421880.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9103C>G",
"hgvs_p": "p.Leu3035Val",
"transcript": "XM_047421881.1",
"protein_id": "XP_047277837.1",
"transcript_support_level": null,
"aa_start": 3035,
"aa_end": null,
"aa_length": 3420,
"cds_start": 9103,
"cds_end": null,
"cds_length": 10263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421881.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9103C>G",
"hgvs_p": "p.Leu3035Val",
"transcript": "XM_047421886.1",
"protein_id": "XP_047277842.1",
"transcript_support_level": null,
"aa_start": 3035,
"aa_end": null,
"aa_length": 3420,
"cds_start": 9103,
"cds_end": null,
"cds_length": 10263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421886.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9091C>G",
"hgvs_p": "p.Leu3031Val",
"transcript": "XM_047421887.1",
"protein_id": "XP_047277843.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3416,
"cds_start": 9091,
"cds_end": null,
"cds_length": 10251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421887.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9091C>G",
"hgvs_p": "p.Leu3031Val",
"transcript": "XM_047421888.1",
"protein_id": "XP_047277844.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3416,
"cds_start": 9091,
"cds_end": null,
"cds_length": 10251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421888.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9061C>G",
"hgvs_p": "p.Leu3021Val",
"transcript": "XM_047421889.1",
"protein_id": "XP_047277845.1",
"transcript_support_level": null,
"aa_start": 3021,
"aa_end": null,
"aa_length": 3406,
"cds_start": 9061,
"cds_end": null,
"cds_length": 10221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421889.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9049C>G",
"hgvs_p": "p.Leu3017Val",
"transcript": "XM_047421890.1",
"protein_id": "XP_047277846.1",
"transcript_support_level": null,
"aa_start": 3017,
"aa_end": null,
"aa_length": 3402,
"cds_start": 9049,
"cds_end": null,
"cds_length": 10209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421890.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9037C>G",
"hgvs_p": "p.Leu3013Val",
"transcript": "XM_047421891.1",
"protein_id": "XP_047277847.1",
"transcript_support_level": null,
"aa_start": 3013,
"aa_end": null,
"aa_length": 3398,
"cds_start": 9037,
"cds_end": null,
"cds_length": 10197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421891.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9034C>G",
"hgvs_p": "p.Leu3012Val",
"transcript": "XM_047421892.1",
"protein_id": "XP_047277848.1",
"transcript_support_level": null,
"aa_start": 3012,
"aa_end": null,
"aa_length": 3397,
"cds_start": 9034,
"cds_end": null,
"cds_length": 10194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421892.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9025C>G",
"hgvs_p": "p.Leu3009Val",
"transcript": "XM_047421893.1",
"protein_id": "XP_047277849.1",
"transcript_support_level": null,
"aa_start": 3009,
"aa_end": null,
"aa_length": 3394,
"cds_start": 9025,
"cds_end": null,
"cds_length": 10185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421893.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.9022C>G",
"hgvs_p": "p.Leu3008Val",
"transcript": "XM_047421895.1",
"protein_id": "XP_047277851.1",
"transcript_support_level": null,
"aa_start": 3008,
"aa_end": null,
"aa_length": 3393,
"cds_start": 9022,
"cds_end": null,
"cds_length": 10182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421895.1"
}
],
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"dbsnp": "rs1554671816",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.811260461807251,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.574,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5224,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.882,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_201380.4",
"gene_symbol": "PLEC",
"hgnc_id": 9069,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.12895C>G",
"hgvs_p": "p.Leu4299Val"
}
],
"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",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}