← 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: 8-143923334-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143923334&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143923334,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000345136.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6595G>A",
"hgvs_p": "p.Asp2199Asn",
"transcript": "NM_201384.3",
"protein_id": "NP_958786.1",
"transcript_support_level": null,
"aa_start": 2199,
"aa_end": null,
"aa_length": 4547,
"cds_start": 6595,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 6731,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "ENST00000345136.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6595G>A",
"hgvs_p": "p.Asp2199Asn",
"transcript": "ENST00000345136.8",
"protein_id": "ENSP00000344848.3",
"transcript_support_level": 1,
"aa_start": 2199,
"aa_end": null,
"aa_length": 4547,
"cds_start": 6595,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 6731,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "NM_201384.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6553G>A",
"hgvs_p": "p.Asp2185Asn",
"transcript": "NM_201378.4",
"protein_id": "NP_958780.1",
"transcript_support_level": null,
"aa_start": 2185,
"aa_end": null,
"aa_length": 4533,
"cds_start": 6553,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 6610,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "ENST00000356346.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6553G>A",
"hgvs_p": "p.Asp2185Asn",
"transcript": "ENST00000356346.7",
"protein_id": "ENSP00000348702.3",
"transcript_support_level": 1,
"aa_start": 2185,
"aa_end": null,
"aa_length": 4533,
"cds_start": 6553,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 6610,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "NM_201378.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.7006G>A",
"hgvs_p": "p.Asp2336Asn",
"transcript": "ENST00000322810.8",
"protein_id": "ENSP00000323856.4",
"transcript_support_level": 1,
"aa_start": 2336,
"aa_end": null,
"aa_length": 4684,
"cds_start": 7006,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 7176,
"cdna_end": null,
"cdna_length": 15249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6676G>A",
"hgvs_p": "p.Asp2226Asn",
"transcript": "ENST00000436759.6",
"protein_id": "ENSP00000388180.2",
"transcript_support_level": 1,
"aa_start": 2226,
"aa_end": null,
"aa_length": 4574,
"cds_start": 6676,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 6714,
"cdna_end": null,
"cdna_length": 14787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6607G>A",
"hgvs_p": "p.Asp2203Asn",
"transcript": "ENST00000357649.6",
"protein_id": "ENSP00000350277.2",
"transcript_support_level": 1,
"aa_start": 2203,
"aa_end": null,
"aa_length": 4551,
"cds_start": 6607,
"cds_end": null,
"cds_length": 13656,
"cdna_start": 6616,
"cdna_end": null,
"cdna_length": 14689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6595G>A",
"hgvs_p": "p.Asp2199Asn",
"transcript": "ENST00000354589.7",
"protein_id": "ENSP00000346602.3",
"transcript_support_level": 1,
"aa_start": 2199,
"aa_end": null,
"aa_length": 4547,
"cds_start": 6595,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 6663,
"cdna_end": null,
"cdna_length": 14736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6529G>A",
"hgvs_p": "p.Asp2177Asn",
"transcript": "ENST00000354958.6",
"protein_id": "ENSP00000347044.2",
"transcript_support_level": 1,
"aa_start": 2177,
"aa_end": null,
"aa_length": 4525,
"cds_start": 6529,
"cds_end": null,
"cds_length": 13578,
"cdna_start": 6678,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6499G>A",
"hgvs_p": "p.Asp2167Asn",
"transcript": "ENST00000398774.6",
"protein_id": "ENSP00000381756.2",
"transcript_support_level": 1,
"aa_start": 2167,
"aa_end": null,
"aa_length": 4515,
"cds_start": 6499,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 6573,
"cdna_end": null,
"cdna_length": 14646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.7006G>A",
"hgvs_p": "p.Asp2336Asn",
"transcript": "NM_201380.4",
"protein_id": "NP_958782.1",
"transcript_support_level": null,
"aa_start": 2336,
"aa_end": null,
"aa_length": 4684,
"cds_start": 7006,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 7226,
"cdna_end": null,
"cdna_length": 15299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6727G>A",
"hgvs_p": "p.Asp2243Asn",
"transcript": "ENST00000528025.6",
"protein_id": "ENSP00000437303.2",
"transcript_support_level": 5,
"aa_start": 2243,
"aa_end": null,
"aa_length": 4591,
"cds_start": 6727,
"cds_end": null,
"cds_length": 13776,
"cdna_start": 6733,
"cdna_end": null,
"cdna_length": 13782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6676G>A",
"hgvs_p": "p.Asp2226Asn",
"transcript": "NM_000445.5",
"protein_id": "NP_000436.2",
"transcript_support_level": null,
"aa_start": 2226,
"aa_end": null,
"aa_length": 4574,
"cds_start": 6676,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 6725,
"cdna_end": null,
"cdna_length": 14798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6664G>A",
"hgvs_p": "p.Asp2222Asn",
"transcript": "ENST00000527096.5",
"protein_id": "ENSP00000434583.1",
"transcript_support_level": 5,
"aa_start": 2222,
"aa_end": null,
"aa_length": 4570,
"cds_start": 6664,
"cds_end": null,
"cds_length": 13713,
"cdna_start": 6664,
"cdna_end": null,
"cdna_length": 13713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6646G>A",
"hgvs_p": "p.Asp2216Asn",
"transcript": "ENST00000685198.1",
"protein_id": "ENSP00000510528.1",
"transcript_support_level": null,
"aa_start": 2216,
"aa_end": null,
"aa_length": 4564,
"cds_start": 6646,
"cds_end": null,
"cds_length": 13695,
"cdna_start": 6688,
"cdna_end": null,
"cdna_length": 13737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6607G>A",
"hgvs_p": "p.Asp2203Asn",
"transcript": "NM_201383.3",
"protein_id": "NP_958785.1",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 4551,
"cds_start": 6607,
"cds_end": null,
"cds_length": 13656,
"cdna_start": 6716,
"cdna_end": null,
"cdna_length": 14789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6595G>A",
"hgvs_p": "p.Asp2199Asn",
"transcript": "NM_201382.4",
"protein_id": "NP_958784.1",
"transcript_support_level": null,
"aa_start": 2199,
"aa_end": null,
"aa_length": 4547,
"cds_start": 6595,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 6690,
"cdna_end": null,
"cdna_length": 14763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6529G>A",
"hgvs_p": "p.Asp2177Asn",
"transcript": "NM_201379.3",
"protein_id": "NP_958781.1",
"transcript_support_level": null,
"aa_start": 2177,
"aa_end": null,
"aa_length": 4525,
"cds_start": 6529,
"cds_end": null,
"cds_length": 13578,
"cdna_start": 6592,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6526G>A",
"hgvs_p": "p.Asp2176Asn",
"transcript": "ENST00000693060.1",
"protein_id": "ENSP00000510329.1",
"transcript_support_level": null,
"aa_start": 2176,
"aa_end": null,
"aa_length": 4524,
"cds_start": 6526,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 6539,
"cdna_end": null,
"cdna_length": 13588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6499G>A",
"hgvs_p": "p.Asp2167Asn",
"transcript": "NM_201381.3",
"protein_id": "NP_958783.1",
"transcript_support_level": null,
"aa_start": 2167,
"aa_end": null,
"aa_length": 4515,
"cds_start": 6499,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 6606,
"cdna_end": null,
"cdna_length": 14679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6313G>A",
"hgvs_p": "p.Asp2105Asn",
"transcript": "ENST00000687971.1",
"protein_id": "ENSP00000510788.1",
"transcript_support_level": null,
"aa_start": 2105,
"aa_end": null,
"aa_length": 4453,
"cds_start": 6313,
"cds_end": null,
"cds_length": 13362,
"cdna_start": 6646,
"cdna_end": null,
"cdna_length": 13695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.7021G>A",
"hgvs_p": "p.Asp2341Asn",
"transcript": "XM_005250976.5",
"protein_id": "XP_005251033.1",
"transcript_support_level": null,
"aa_start": 2341,
"aa_end": null,
"aa_length": 4689,
"cds_start": 7021,
"cds_end": null,
"cds_length": 14070,
"cdna_start": 7241,
"cdna_end": null,
"cdna_length": 15314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6994G>A",
"hgvs_p": "p.Asp2332Asn",
"transcript": "XM_047421870.1",
"protein_id": "XP_047277826.1",
"transcript_support_level": null,
"aa_start": 2332,
"aa_end": null,
"aa_length": 4680,
"cds_start": 6994,
"cds_end": null,
"cds_length": 14043,
"cdna_start": 7214,
"cdna_end": null,
"cdna_length": 15287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6691G>A",
"hgvs_p": "p.Asp2231Asn",
"transcript": "XM_006716588.4",
"protein_id": "XP_006716651.1",
"transcript_support_level": null,
"aa_start": 2231,
"aa_end": null,
"aa_length": 4579,
"cds_start": 6691,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 6740,
"cdna_end": null,
"cdna_length": 14813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6664G>A",
"hgvs_p": "p.Asp2222Asn",
"transcript": "XM_047421872.1",
"protein_id": "XP_047277828.1",
"transcript_support_level": null,
"aa_start": 2222,
"aa_end": null,
"aa_length": 4570,
"cds_start": 6664,
"cds_end": null,
"cds_length": 13713,
"cdna_start": 6713,
"cdna_end": null,
"cdna_length": 14786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6622G>A",
"hgvs_p": "p.Asp2208Asn",
"transcript": "XM_005250978.4",
"protein_id": "XP_005251035.1",
"transcript_support_level": null,
"aa_start": 2208,
"aa_end": null,
"aa_length": 4556,
"cds_start": 6622,
"cds_end": null,
"cds_length": 13671,
"cdna_start": 6731,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6610G>A",
"hgvs_p": "p.Asp2204Asn",
"transcript": "XM_005250979.5",
"protein_id": "XP_005251036.1",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 4552,
"cds_start": 6610,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 6705,
"cdna_end": null,
"cdna_length": 14778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6610G>A",
"hgvs_p": "p.Asp2204Asn",
"transcript": "XM_005250980.5",
"protein_id": "XP_005251037.1",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 4552,
"cds_start": 6610,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 6746,
"cdna_end": null,
"cdna_length": 14819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6610G>A",
"hgvs_p": "p.Asp2204Asn",
"transcript": "XM_011517130.3",
"protein_id": "XP_011515432.1",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 4552,
"cds_start": 6610,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 6719,
"cdna_end": null,
"cdna_length": 14792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6595G>A",
"hgvs_p": "p.Asp2199Asn",
"transcript": "XM_047421869.1",
"protein_id": "XP_047277825.1",
"transcript_support_level": null,
"aa_start": 2199,
"aa_end": null,
"aa_length": 4547,
"cds_start": 6595,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 6704,
"cdna_end": null,
"cdna_length": 14777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6583G>A",
"hgvs_p": "p.Asp2195Asn",
"transcript": "XM_047421873.1",
"protein_id": "XP_047277829.1",
"transcript_support_level": null,
"aa_start": 2195,
"aa_end": null,
"aa_length": 4543,
"cds_start": 6583,
"cds_end": null,
"cds_length": 13632,
"cdna_start": 6719,
"cdna_end": null,
"cdna_length": 14792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6583G>A",
"hgvs_p": "p.Asp2195Asn",
"transcript": "XM_047421874.1",
"protein_id": "XP_047277830.1",
"transcript_support_level": null,
"aa_start": 2195,
"aa_end": null,
"aa_length": 4543,
"cds_start": 6583,
"cds_end": null,
"cds_length": 13632,
"cdna_start": 6678,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6568G>A",
"hgvs_p": "p.Asp2190Asn",
"transcript": "XM_005250981.4",
"protein_id": "XP_005251038.1",
"transcript_support_level": null,
"aa_start": 2190,
"aa_end": null,
"aa_length": 4538,
"cds_start": 6568,
"cds_end": null,
"cds_length": 13617,
"cdna_start": 6625,
"cdna_end": null,
"cdna_length": 14698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6544G>A",
"hgvs_p": "p.Asp2182Asn",
"transcript": "XM_005250982.5",
"protein_id": "XP_005251039.1",
"transcript_support_level": null,
"aa_start": 2182,
"aa_end": null,
"aa_length": 4530,
"cds_start": 6544,
"cds_end": null,
"cds_length": 13593,
"cdna_start": 6607,
"cdna_end": null,
"cdna_length": 14680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6541G>A",
"hgvs_p": "p.Asp2181Asn",
"transcript": "XM_006716589.3",
"protein_id": "XP_006716652.1",
"transcript_support_level": null,
"aa_start": 2181,
"aa_end": null,
"aa_length": 4529,
"cds_start": 6541,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 6589,
"cdna_end": null,
"cdna_length": 14662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6541G>A",
"hgvs_p": "p.Asp2181Asn",
"transcript": "XM_006716590.4",
"protein_id": "XP_006716653.1",
"transcript_support_level": null,
"aa_start": 2181,
"aa_end": null,
"aa_length": 4529,
"cds_start": 6541,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 6607,
"cdna_end": null,
"cdna_length": 14680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6541G>A",
"hgvs_p": "p.Asp2181Asn",
"transcript": "XM_047421875.1",
"protein_id": "XP_047277831.1",
"transcript_support_level": null,
"aa_start": 2181,
"aa_end": null,
"aa_length": 4529,
"cds_start": 6541,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 6598,
"cdna_end": null,
"cdna_length": 14671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6526G>A",
"hgvs_p": "p.Asp2176Asn",
"transcript": "XM_005250983.3",
"protein_id": "XP_005251040.1",
"transcript_support_level": null,
"aa_start": 2176,
"aa_end": null,
"aa_length": 4524,
"cds_start": 6526,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 6574,
"cdna_end": null,
"cdna_length": 14647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6526G>A",
"hgvs_p": "p.Asp2176Asn",
"transcript": "XM_011517131.3",
"protein_id": "XP_011515433.1",
"transcript_support_level": null,
"aa_start": 2176,
"aa_end": null,
"aa_length": 4524,
"cds_start": 6526,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 6592,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6517G>A",
"hgvs_p": "p.Asp2173Asn",
"transcript": "XM_047421877.1",
"protein_id": "XP_047277833.1",
"transcript_support_level": null,
"aa_start": 2173,
"aa_end": null,
"aa_length": 4521,
"cds_start": 6517,
"cds_end": null,
"cds_length": 13566,
"cdna_start": 6580,
"cdna_end": null,
"cdna_length": 14653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6514G>A",
"hgvs_p": "p.Asp2172Asn",
"transcript": "XM_005250984.6",
"protein_id": "XP_005251041.1",
"transcript_support_level": null,
"aa_start": 2172,
"aa_end": null,
"aa_length": 4520,
"cds_start": 6514,
"cds_end": null,
"cds_length": 13563,
"cdna_start": 6621,
"cdna_end": null,
"cdna_length": 14694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6514G>A",
"hgvs_p": "p.Asp2172Asn",
"transcript": "XM_047421878.1",
"protein_id": "XP_047277834.1",
"transcript_support_level": null,
"aa_start": 2172,
"aa_end": null,
"aa_length": 4520,
"cds_start": 6514,
"cds_end": null,
"cds_length": 13563,
"cdna_start": 6562,
"cdna_end": null,
"cdna_length": 14635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.6313G>A",
"hgvs_p": "p.Asp2105Asn",
"transcript": "XM_047421879.1",
"protein_id": "XP_047277835.1",
"transcript_support_level": null,
"aa_start": 2105,
"aa_end": null,
"aa_length": 4453,
"cds_start": 6313,
"cds_end": null,
"cds_length": 13362,
"cdna_start": 6808,
"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.4126-939G>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.4126-939G>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.4456-939G>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.4444-939G>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.4072-939G>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.4060-939G>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.4045-939G>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.4045-939G>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.4033-939G>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.4033-939G>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.4003-939G>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.3991-939G>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.3979-939G>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.3976-939G>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.3967-939G>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.3964-939G>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": "rs782456298",
"frequency_reference_population": 0.000022984479,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000240118,
"gnomad_genomes_af": 0.0000131435,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6081814765930176,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.0953,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.798,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000345136.8",
"gene_symbol": "PLEC",
"hgnc_id": 9069,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6595G>A",
"hgvs_p": "p.Asp2199Asn"
}
],
"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,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Epidermolysis bullosa simplex 5B, with muscular dystrophy;Autosomal recessive limb-girdle muscular dystrophy type 2Q;Epidermolysis bullosa simplex 5C, with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex with nail dystrophy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}