← 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: 8-143921941-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143921941&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143921941,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000345136.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"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.7880C>A",
"hgvs_p": "p.Pro2627His",
"transcript": "NM_201384.3",
"protein_id": "NP_958786.1",
"transcript_support_level": null,
"aa_start": 2627,
"aa_end": null,
"aa_length": 4547,
"cds_start": 7880,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 8016,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "ENST00000345136.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7880C>A",
"hgvs_p": "p.Pro2627His",
"transcript": "ENST00000345136.8",
"protein_id": "ENSP00000344848.3",
"transcript_support_level": 1,
"aa_start": 2627,
"aa_end": null,
"aa_length": 4547,
"cds_start": 7880,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 8016,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": "NM_201384.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7838C>A",
"hgvs_p": "p.Pro2613His",
"transcript": "NM_201378.4",
"protein_id": "NP_958780.1",
"transcript_support_level": null,
"aa_start": 2613,
"aa_end": null,
"aa_length": 4533,
"cds_start": 7838,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 7895,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "ENST00000356346.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7838C>A",
"hgvs_p": "p.Pro2613His",
"transcript": "ENST00000356346.7",
"protein_id": "ENSP00000348702.3",
"transcript_support_level": 1,
"aa_start": 2613,
"aa_end": null,
"aa_length": 4533,
"cds_start": 7838,
"cds_end": null,
"cds_length": 13602,
"cdna_start": 7895,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "NM_201378.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.8291C>A",
"hgvs_p": "p.Pro2764His",
"transcript": "ENST00000322810.8",
"protein_id": "ENSP00000323856.4",
"transcript_support_level": 1,
"aa_start": 2764,
"aa_end": null,
"aa_length": 4684,
"cds_start": 8291,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 8461,
"cdna_end": null,
"cdna_length": 15249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7961C>A",
"hgvs_p": "p.Pro2654His",
"transcript": "ENST00000436759.6",
"protein_id": "ENSP00000388180.2",
"transcript_support_level": 1,
"aa_start": 2654,
"aa_end": null,
"aa_length": 4574,
"cds_start": 7961,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 7999,
"cdna_end": null,
"cdna_length": 14787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7892C>A",
"hgvs_p": "p.Pro2631His",
"transcript": "ENST00000357649.6",
"protein_id": "ENSP00000350277.2",
"transcript_support_level": 1,
"aa_start": 2631,
"aa_end": null,
"aa_length": 4551,
"cds_start": 7892,
"cds_end": null,
"cds_length": 13656,
"cdna_start": 7901,
"cdna_end": null,
"cdna_length": 14689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7880C>A",
"hgvs_p": "p.Pro2627His",
"transcript": "ENST00000354589.7",
"protein_id": "ENSP00000346602.3",
"transcript_support_level": 1,
"aa_start": 2627,
"aa_end": null,
"aa_length": 4547,
"cds_start": 7880,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 7948,
"cdna_end": null,
"cdna_length": 14736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7814C>A",
"hgvs_p": "p.Pro2605His",
"transcript": "ENST00000354958.6",
"protein_id": "ENSP00000347044.2",
"transcript_support_level": 1,
"aa_start": 2605,
"aa_end": null,
"aa_length": 4525,
"cds_start": 7814,
"cds_end": null,
"cds_length": 13578,
"cdna_start": 7963,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7784C>A",
"hgvs_p": "p.Pro2595His",
"transcript": "ENST00000398774.6",
"protein_id": "ENSP00000381756.2",
"transcript_support_level": 1,
"aa_start": 2595,
"aa_end": null,
"aa_length": 4515,
"cds_start": 7784,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 7858,
"cdna_end": null,
"cdna_length": 14646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.8291C>A",
"hgvs_p": "p.Pro2764His",
"transcript": "NM_201380.4",
"protein_id": "NP_958782.1",
"transcript_support_level": null,
"aa_start": 2764,
"aa_end": null,
"aa_length": 4684,
"cds_start": 8291,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 8511,
"cdna_end": null,
"cdna_length": 15299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.8012C>A",
"hgvs_p": "p.Pro2671His",
"transcript": "ENST00000528025.6",
"protein_id": "ENSP00000437303.2",
"transcript_support_level": 5,
"aa_start": 2671,
"aa_end": null,
"aa_length": 4591,
"cds_start": 8012,
"cds_end": null,
"cds_length": 13776,
"cdna_start": 8018,
"cdna_end": null,
"cdna_length": 13782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7961C>A",
"hgvs_p": "p.Pro2654His",
"transcript": "NM_000445.5",
"protein_id": "NP_000436.2",
"transcript_support_level": null,
"aa_start": 2654,
"aa_end": null,
"aa_length": 4574,
"cds_start": 7961,
"cds_end": null,
"cds_length": 13725,
"cdna_start": 8010,
"cdna_end": null,
"cdna_length": 14798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7949C>A",
"hgvs_p": "p.Pro2650His",
"transcript": "ENST00000527096.5",
"protein_id": "ENSP00000434583.1",
"transcript_support_level": 5,
"aa_start": 2650,
"aa_end": null,
"aa_length": 4570,
"cds_start": 7949,
"cds_end": null,
"cds_length": 13713,
"cdna_start": 7949,
"cdna_end": null,
"cdna_length": 13713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7931C>A",
"hgvs_p": "p.Pro2644His",
"transcript": "ENST00000685198.1",
"protein_id": "ENSP00000510528.1",
"transcript_support_level": null,
"aa_start": 2644,
"aa_end": null,
"aa_length": 4564,
"cds_start": 7931,
"cds_end": null,
"cds_length": 13695,
"cdna_start": 7973,
"cdna_end": null,
"cdna_length": 13737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7892C>A",
"hgvs_p": "p.Pro2631His",
"transcript": "NM_201383.3",
"protein_id": "NP_958785.1",
"transcript_support_level": null,
"aa_start": 2631,
"aa_end": null,
"aa_length": 4551,
"cds_start": 7892,
"cds_end": null,
"cds_length": 13656,
"cdna_start": 8001,
"cdna_end": null,
"cdna_length": 14789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7880C>A",
"hgvs_p": "p.Pro2627His",
"transcript": "NM_201382.4",
"protein_id": "NP_958784.1",
"transcript_support_level": null,
"aa_start": 2627,
"aa_end": null,
"aa_length": 4547,
"cds_start": 7880,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 7975,
"cdna_end": null,
"cdna_length": 14763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7814C>A",
"hgvs_p": "p.Pro2605His",
"transcript": "NM_201379.3",
"protein_id": "NP_958781.1",
"transcript_support_level": null,
"aa_start": 2605,
"aa_end": null,
"aa_length": 4525,
"cds_start": 7814,
"cds_end": null,
"cds_length": 13578,
"cdna_start": 7877,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7811C>A",
"hgvs_p": "p.Pro2604His",
"transcript": "ENST00000693060.1",
"protein_id": "ENSP00000510329.1",
"transcript_support_level": null,
"aa_start": 2604,
"aa_end": null,
"aa_length": 4524,
"cds_start": 7811,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 7824,
"cdna_end": null,
"cdna_length": 13588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7784C>A",
"hgvs_p": "p.Pro2595His",
"transcript": "NM_201381.3",
"protein_id": "NP_958783.1",
"transcript_support_level": null,
"aa_start": 2595,
"aa_end": null,
"aa_length": 4515,
"cds_start": 7784,
"cds_end": null,
"cds_length": 13548,
"cdna_start": 7891,
"cdna_end": null,
"cdna_length": 14679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7598C>A",
"hgvs_p": "p.Pro2533His",
"transcript": "ENST00000687971.1",
"protein_id": "ENSP00000510788.1",
"transcript_support_level": null,
"aa_start": 2533,
"aa_end": null,
"aa_length": 4453,
"cds_start": 7598,
"cds_end": null,
"cds_length": 13362,
"cdna_start": 7931,
"cdna_end": null,
"cdna_length": 13695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4580C>A",
"hgvs_p": "p.Pro1527His",
"transcript": "NM_001410941.1",
"protein_id": "NP_001397870.1",
"transcript_support_level": null,
"aa_start": 1527,
"aa_end": null,
"aa_length": 3447,
"cds_start": 4580,
"cds_end": null,
"cds_length": 10344,
"cdna_start": 4629,
"cdna_end": null,
"cdna_length": 11417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4580C>A",
"hgvs_p": "p.Pro1527His",
"transcript": "ENST00000527303.2",
"protein_id": "ENSP00000433982.2",
"transcript_support_level": 3,
"aa_start": 1527,
"aa_end": null,
"aa_length": 3447,
"cds_start": 4580,
"cds_end": null,
"cds_length": 10344,
"cdna_start": 4618,
"cdna_end": null,
"cdna_length": 11406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.8306C>A",
"hgvs_p": "p.Pro2769His",
"transcript": "XM_005250976.5",
"protein_id": "XP_005251033.1",
"transcript_support_level": null,
"aa_start": 2769,
"aa_end": null,
"aa_length": 4689,
"cds_start": 8306,
"cds_end": null,
"cds_length": 14070,
"cdna_start": 8526,
"cdna_end": null,
"cdna_length": 15314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.8279C>A",
"hgvs_p": "p.Pro2760His",
"transcript": "XM_047421870.1",
"protein_id": "XP_047277826.1",
"transcript_support_level": null,
"aa_start": 2760,
"aa_end": null,
"aa_length": 4680,
"cds_start": 8279,
"cds_end": null,
"cds_length": 14043,
"cdna_start": 8499,
"cdna_end": null,
"cdna_length": 15287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7976C>A",
"hgvs_p": "p.Pro2659His",
"transcript": "XM_006716588.4",
"protein_id": "XP_006716651.1",
"transcript_support_level": null,
"aa_start": 2659,
"aa_end": null,
"aa_length": 4579,
"cds_start": 7976,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 8025,
"cdna_end": null,
"cdna_length": 14813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7949C>A",
"hgvs_p": "p.Pro2650His",
"transcript": "XM_047421872.1",
"protein_id": "XP_047277828.1",
"transcript_support_level": null,
"aa_start": 2650,
"aa_end": null,
"aa_length": 4570,
"cds_start": 7949,
"cds_end": null,
"cds_length": 13713,
"cdna_start": 7998,
"cdna_end": null,
"cdna_length": 14786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7907C>A",
"hgvs_p": "p.Pro2636His",
"transcript": "XM_005250978.4",
"protein_id": "XP_005251035.1",
"transcript_support_level": null,
"aa_start": 2636,
"aa_end": null,
"aa_length": 4556,
"cds_start": 7907,
"cds_end": null,
"cds_length": 13671,
"cdna_start": 8016,
"cdna_end": null,
"cdna_length": 14804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7895C>A",
"hgvs_p": "p.Pro2632His",
"transcript": "XM_005250979.5",
"protein_id": "XP_005251036.1",
"transcript_support_level": null,
"aa_start": 2632,
"aa_end": null,
"aa_length": 4552,
"cds_start": 7895,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 7990,
"cdna_end": null,
"cdna_length": 14778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7895C>A",
"hgvs_p": "p.Pro2632His",
"transcript": "XM_005250980.5",
"protein_id": "XP_005251037.1",
"transcript_support_level": null,
"aa_start": 2632,
"aa_end": null,
"aa_length": 4552,
"cds_start": 7895,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 8031,
"cdna_end": null,
"cdna_length": 14819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7895C>A",
"hgvs_p": "p.Pro2632His",
"transcript": "XM_011517130.3",
"protein_id": "XP_011515432.1",
"transcript_support_level": null,
"aa_start": 2632,
"aa_end": null,
"aa_length": 4552,
"cds_start": 7895,
"cds_end": null,
"cds_length": 13659,
"cdna_start": 8004,
"cdna_end": null,
"cdna_length": 14792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7880C>A",
"hgvs_p": "p.Pro2627His",
"transcript": "XM_047421869.1",
"protein_id": "XP_047277825.1",
"transcript_support_level": null,
"aa_start": 2627,
"aa_end": null,
"aa_length": 4547,
"cds_start": 7880,
"cds_end": null,
"cds_length": 13644,
"cdna_start": 7989,
"cdna_end": null,
"cdna_length": 14777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7868C>A",
"hgvs_p": "p.Pro2623His",
"transcript": "XM_047421873.1",
"protein_id": "XP_047277829.1",
"transcript_support_level": null,
"aa_start": 2623,
"aa_end": null,
"aa_length": 4543,
"cds_start": 7868,
"cds_end": null,
"cds_length": 13632,
"cdna_start": 8004,
"cdna_end": null,
"cdna_length": 14792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7868C>A",
"hgvs_p": "p.Pro2623His",
"transcript": "XM_047421874.1",
"protein_id": "XP_047277830.1",
"transcript_support_level": null,
"aa_start": 2623,
"aa_end": null,
"aa_length": 4543,
"cds_start": 7868,
"cds_end": null,
"cds_length": 13632,
"cdna_start": 7963,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7853C>A",
"hgvs_p": "p.Pro2618His",
"transcript": "XM_005250981.4",
"protein_id": "XP_005251038.1",
"transcript_support_level": null,
"aa_start": 2618,
"aa_end": null,
"aa_length": 4538,
"cds_start": 7853,
"cds_end": null,
"cds_length": 13617,
"cdna_start": 7910,
"cdna_end": null,
"cdna_length": 14698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7829C>A",
"hgvs_p": "p.Pro2610His",
"transcript": "XM_005250982.5",
"protein_id": "XP_005251039.1",
"transcript_support_level": null,
"aa_start": 2610,
"aa_end": null,
"aa_length": 4530,
"cds_start": 7829,
"cds_end": null,
"cds_length": 13593,
"cdna_start": 7892,
"cdna_end": null,
"cdna_length": 14680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7826C>A",
"hgvs_p": "p.Pro2609His",
"transcript": "XM_006716589.3",
"protein_id": "XP_006716652.1",
"transcript_support_level": null,
"aa_start": 2609,
"aa_end": null,
"aa_length": 4529,
"cds_start": 7826,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 7874,
"cdna_end": null,
"cdna_length": 14662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7826C>A",
"hgvs_p": "p.Pro2609His",
"transcript": "XM_006716590.4",
"protein_id": "XP_006716653.1",
"transcript_support_level": null,
"aa_start": 2609,
"aa_end": null,
"aa_length": 4529,
"cds_start": 7826,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 7892,
"cdna_end": null,
"cdna_length": 14680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7826C>A",
"hgvs_p": "p.Pro2609His",
"transcript": "XM_047421875.1",
"protein_id": "XP_047277831.1",
"transcript_support_level": null,
"aa_start": 2609,
"aa_end": null,
"aa_length": 4529,
"cds_start": 7826,
"cds_end": null,
"cds_length": 13590,
"cdna_start": 7883,
"cdna_end": null,
"cdna_length": 14671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7811C>A",
"hgvs_p": "p.Pro2604His",
"transcript": "XM_005250983.3",
"protein_id": "XP_005251040.1",
"transcript_support_level": null,
"aa_start": 2604,
"aa_end": null,
"aa_length": 4524,
"cds_start": 7811,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 7859,
"cdna_end": null,
"cdna_length": 14647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7811C>A",
"hgvs_p": "p.Pro2604His",
"transcript": "XM_011517131.3",
"protein_id": "XP_011515433.1",
"transcript_support_level": null,
"aa_start": 2604,
"aa_end": null,
"aa_length": 4524,
"cds_start": 7811,
"cds_end": null,
"cds_length": 13575,
"cdna_start": 7877,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7802C>A",
"hgvs_p": "p.Pro2601His",
"transcript": "XM_047421877.1",
"protein_id": "XP_047277833.1",
"transcript_support_level": null,
"aa_start": 2601,
"aa_end": null,
"aa_length": 4521,
"cds_start": 7802,
"cds_end": null,
"cds_length": 13566,
"cdna_start": 7865,
"cdna_end": null,
"cdna_length": 14653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7799C>A",
"hgvs_p": "p.Pro2600His",
"transcript": "XM_005250984.6",
"protein_id": "XP_005251041.1",
"transcript_support_level": null,
"aa_start": 2600,
"aa_end": null,
"aa_length": 4520,
"cds_start": 7799,
"cds_end": null,
"cds_length": 13563,
"cdna_start": 7906,
"cdna_end": null,
"cdna_length": 14694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7799C>A",
"hgvs_p": "p.Pro2600His",
"transcript": "XM_047421878.1",
"protein_id": "XP_047277834.1",
"transcript_support_level": null,
"aa_start": 2600,
"aa_end": null,
"aa_length": 4520,
"cds_start": 7799,
"cds_end": null,
"cds_length": 13563,
"cdna_start": 7847,
"cdna_end": null,
"cdna_length": 14635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.7598C>A",
"hgvs_p": "p.Pro2533His",
"transcript": "XM_047421879.1",
"protein_id": "XP_047277835.1",
"transcript_support_level": null,
"aa_start": 2533,
"aa_end": null,
"aa_length": 4453,
"cds_start": 7598,
"cds_end": null,
"cds_length": 13362,
"cdna_start": 8093,
"cdna_end": null,
"cdna_length": 14881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4910C>A",
"hgvs_p": "p.Pro1637His",
"transcript": "XM_047421882.1",
"protein_id": "XP_047277838.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 3557,
"cds_start": 4910,
"cds_end": null,
"cds_length": 10674,
"cdna_start": 5130,
"cdna_end": null,
"cdna_length": 11918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4898C>A",
"hgvs_p": "p.Pro1633His",
"transcript": "XM_047421884.1",
"protein_id": "XP_047277840.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 3553,
"cds_start": 4898,
"cds_end": null,
"cds_length": 10662,
"cdna_start": 5118,
"cdna_end": null,
"cdna_length": 11906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4526C>A",
"hgvs_p": "p.Pro1509His",
"transcript": "XM_011517132.3",
"protein_id": "XP_011515434.1",
"transcript_support_level": null,
"aa_start": 1509,
"aa_end": null,
"aa_length": 3429,
"cds_start": 4526,
"cds_end": null,
"cds_length": 10290,
"cdna_start": 4635,
"cdna_end": null,
"cdna_length": 11423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4514C>A",
"hgvs_p": "p.Pro1505His",
"transcript": "XM_047421880.1",
"protein_id": "XP_047277836.1",
"transcript_support_level": null,
"aa_start": 1505,
"aa_end": null,
"aa_length": 3425,
"cds_start": 4514,
"cds_end": null,
"cds_length": 10278,
"cdna_start": 4623,
"cdna_end": null,
"cdna_length": 11411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4499C>A",
"hgvs_p": "p.Pro1500His",
"transcript": "XM_047421881.1",
"protein_id": "XP_047277837.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 3420,
"cds_start": 4499,
"cds_end": null,
"cds_length": 10263,
"cdna_start": 4608,
"cdna_end": null,
"cdna_length": 11396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4499C>A",
"hgvs_p": "p.Pro1500His",
"transcript": "XM_047421886.1",
"protein_id": "XP_047277842.1",
"transcript_support_level": null,
"aa_start": 1500,
"aa_end": null,
"aa_length": 3420,
"cds_start": 4499,
"cds_end": null,
"cds_length": 10263,
"cdna_start": 4635,
"cdna_end": null,
"cdna_length": 11423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4487C>A",
"hgvs_p": "p.Pro1496His",
"transcript": "XM_047421887.1",
"protein_id": "XP_047277843.1",
"transcript_support_level": null,
"aa_start": 1496,
"aa_end": null,
"aa_length": 3416,
"cds_start": 4487,
"cds_end": null,
"cds_length": 10251,
"cdna_start": 4623,
"cdna_end": null,
"cdna_length": 11411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4487C>A",
"hgvs_p": "p.Pro1496His",
"transcript": "XM_047421888.1",
"protein_id": "XP_047277844.1",
"transcript_support_level": null,
"aa_start": 1496,
"aa_end": null,
"aa_length": 3416,
"cds_start": 4487,
"cds_end": null,
"cds_length": 10251,
"cdna_start": 4582,
"cdna_end": null,
"cdna_length": 11370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4457C>A",
"hgvs_p": "p.Pro1486His",
"transcript": "XM_047421889.1",
"protein_id": "XP_047277845.1",
"transcript_support_level": null,
"aa_start": 1486,
"aa_end": null,
"aa_length": 3406,
"cds_start": 4457,
"cds_end": null,
"cds_length": 10221,
"cdna_start": 4514,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4445C>A",
"hgvs_p": "p.Pro1482His",
"transcript": "XM_047421890.1",
"protein_id": "XP_047277846.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 3402,
"cds_start": 4445,
"cds_end": null,
"cds_length": 10209,
"cdna_start": 4502,
"cdna_end": null,
"cdna_length": 11290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4433C>A",
"hgvs_p": "p.Pro1478His",
"transcript": "XM_047421891.1",
"protein_id": "XP_047277847.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 3398,
"cds_start": 4433,
"cds_end": null,
"cds_length": 10197,
"cdna_start": 4496,
"cdna_end": null,
"cdna_length": 11284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4430C>A",
"hgvs_p": "p.Pro1477His",
"transcript": "XM_047421892.1",
"protein_id": "XP_047277848.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 3397,
"cds_start": 4430,
"cds_end": null,
"cds_length": 10194,
"cdna_start": 4478,
"cdna_end": null,
"cdna_length": 11266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4421C>A",
"hgvs_p": "p.Pro1474His",
"transcript": "XM_047421893.1",
"protein_id": "XP_047277849.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 3394,
"cds_start": 4421,
"cds_end": null,
"cds_length": 10185,
"cdna_start": 4484,
"cdna_end": null,
"cdna_length": 11272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"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.4418C>A",
"hgvs_p": "p.Pro1473His",
"transcript": "XM_047421895.1",
"protein_id": "XP_047277851.1",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 3393,
"cds_start": 4418,
"cds_end": null,
"cds_length": 10182,
"cdna_start": 4466,
"cdna_end": null,
"cdna_length": 11254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"dbsnp": "rs184879368",
"frequency_reference_population": 6.9109456e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.91095e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2590230703353882,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.233,
"revel_prediction": "Benign",
"alphamissense_score": 0.1595,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.083,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000345136.8",
"gene_symbol": "PLEC",
"hgnc_id": 9069,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.7880C>A",
"hgvs_p": "p.Pro2627His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}