← 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: 11-130120743-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=130120743&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APLP2",
"hgnc_id": 598,
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001642.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 65,
"alphamissense_prediction": null,
"alphamissense_score": 0.1776,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08131176233291626,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 751,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2256,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001142276.2",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338167.10",
"protein_coding": true,
"protein_id": "NP_001135748.1",
"strand": true,
"transcript": "NM_001142276.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 751,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2256,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000338167.10",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001142276.2",
"protein_coding": true,
"protein_id": "ENSP00000345444.5",
"strand": true,
"transcript": "ENST00000338167.10",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 763,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 513,
"cds_end": null,
"cds_length": 2292,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000263574.9",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263574.5",
"strand": true,
"transcript": "ENST00000263574.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 695,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2088,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000528499.5",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435914.1",
"strand": true,
"transcript": "ENST00000528499.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 522,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": null,
"cds_end": null,
"cds_length": 1569,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000345598.9",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.404-5957A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263575.6",
"strand": true,
"transcript": "ENST00000345598.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 785,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3797,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2358,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969909.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639968.1",
"strand": true,
"transcript": "ENST00000969909.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 784,
"aa_ref": "E",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 609,
"cds_end": null,
"cds_length": 2355,
"cds_start": 504,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881676.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.504A>T",
"hgvs_p": "p.Glu168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551735.1",
"strand": true,
"transcript": "ENST00000881676.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 773,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 546,
"cds_end": null,
"cds_length": 2322,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881675.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551734.1",
"strand": true,
"transcript": "ENST00000881675.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "E",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 586,
"cds_end": null,
"cds_length": 2319,
"cds_start": 504,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881682.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.504A>T",
"hgvs_p": "p.Glu168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551741.1",
"strand": true,
"transcript": "ENST00000881682.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 766,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2301,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881684.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551743.1",
"strand": true,
"transcript": "ENST00000881684.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 763,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3733,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2292,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001642.3",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001633.1",
"strand": true,
"transcript": "NM_001642.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 763,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3742,
"cdna_start": 535,
"cds_end": null,
"cds_length": 2292,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000650012.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497691.1",
"strand": true,
"transcript": "ENST00000650012.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 761,
"aa_ref": "E",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3688,
"cdna_start": 516,
"cds_end": null,
"cds_length": 2286,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001243299.2",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.471A>T",
"hgvs_p": "p.Glu157Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230228.1",
"strand": true,
"transcript": "NM_001243299.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 761,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2286,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382526.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369455.1",
"strand": true,
"transcript": "NM_001382526.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 761,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2286,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382527.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369456.1",
"strand": true,
"transcript": "NM_001382527.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 761,
"aa_ref": "E",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 516,
"cds_end": null,
"cds_length": 2286,
"cds_start": 471,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000278756.7",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.471A>T",
"hgvs_p": "p.Glu157Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000278756.7",
"strand": true,
"transcript": "ENST00000278756.7",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 540,
"cds_end": null,
"cds_length": 2271,
"cds_start": 456,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382528.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.456A>T",
"hgvs_p": "p.Glu152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369457.1",
"strand": true,
"transcript": "NM_001382528.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2271,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881679.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551738.1",
"strand": true,
"transcript": "ENST00000881679.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 749,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3691,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2250,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382529.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369458.1",
"strand": true,
"transcript": "NM_001382529.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 749,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3689,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2250,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881685.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551744.1",
"strand": true,
"transcript": "ENST00000881685.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 748,
"aa_ref": "E",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": 480,
"cds_end": null,
"cds_length": 2247,
"cds_start": 396,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881678.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Glu132Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551737.1",
"strand": true,
"transcript": "ENST00000881678.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 739,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2220,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881690.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551749.1",
"strand": true,
"transcript": "ENST00000881690.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 736,
"aa_ref": "E",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3658,
"cdna_start": 480,
"cds_end": null,
"cds_length": 2211,
"cds_start": 396,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881677.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Glu132Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551736.1",
"strand": true,
"transcript": "ENST00000881677.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 730,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2193,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001328686.2",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001315615.1",
"strand": true,
"transcript": "NM_001328686.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 730,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3632,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2193,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881688.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551747.1",
"strand": true,
"transcript": "ENST00000881688.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 729,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2190,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881689.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551748.1",
"strand": true,
"transcript": "ENST00000881689.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 726,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3622,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2181,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382530.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369459.1",
"strand": true,
"transcript": "NM_001382530.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3601,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2160,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382531.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369460.1",
"strand": true,
"transcript": "NM_001382531.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 718,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3598,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2157,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382532.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369461.1",
"strand": true,
"transcript": "NM_001382532.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 718,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3596,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2157,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881686.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551745.1",
"strand": true,
"transcript": "ENST00000881686.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 717,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2154,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881680.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551739.1",
"strand": true,
"transcript": "ENST00000881680.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 716,
"aa_ref": "E",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3592,
"cdna_start": 586,
"cds_end": null,
"cds_length": 2151,
"cds_start": 504,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881681.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.504A>T",
"hgvs_p": "p.Glu168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551740.1",
"strand": true,
"transcript": "ENST00000881681.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 707,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2124,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001328682.2",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001315611.1",
"strand": true,
"transcript": "NM_001328682.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 707,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3637,
"cdna_start": 591,
"cds_end": null,
"cds_length": 2124,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881671.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551730.1",
"strand": true,
"transcript": "ENST00000881671.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 705,
"aa_ref": "E",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 351,
"cds_end": null,
"cds_length": 2118,
"cds_start": 267,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382533.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.267A>T",
"hgvs_p": "p.Glu89Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369462.1",
"strand": true,
"transcript": "NM_001382533.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 702,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3548,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2109,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917769.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587828.1",
"strand": true,
"transcript": "ENST00000917769.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 702,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": 512,
"cds_end": null,
"cds_length": 2109,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917772.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587831.1",
"strand": true,
"transcript": "ENST00000917772.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 701,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2106,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382534.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369463.1",
"strand": true,
"transcript": "NM_001382534.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 700,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2103,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001328684.2",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001315613.1",
"strand": true,
"transcript": "NM_001328684.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 700,
"aa_ref": "E",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 540,
"cds_end": null,
"cds_length": 2103,
"cds_start": 456,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382535.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.456A>T",
"hgvs_p": "p.Glu152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369464.1",
"strand": true,
"transcript": "NM_001382535.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 700,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3596,
"cdna_start": 575,
"cds_end": null,
"cds_length": 2103,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881672.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551731.1",
"strand": true,
"transcript": "ENST00000881672.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 700,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2103,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917766.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587825.1",
"strand": true,
"transcript": "ENST00000917766.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 699,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2100,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881683.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551742.1",
"strand": true,
"transcript": "ENST00000881683.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 695,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2088,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001142277.2",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135749.1",
"strand": true,
"transcript": "NM_001142277.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 693,
"aa_ref": "E",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3523,
"cdna_start": 351,
"cds_end": null,
"cds_length": 2082,
"cds_start": 267,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382536.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.267A>T",
"hgvs_p": "p.Glu89Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369465.1",
"strand": true,
"transcript": "NM_001382536.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 693,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": 577,
"cds_end": null,
"cds_length": 2082,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917763.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587822.1",
"strand": true,
"transcript": "ENST00000917763.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 693,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2082,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917768.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587827.1",
"strand": true,
"transcript": "ENST00000917768.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 478,
"cds_end": null,
"cds_length": 2079,
"cds_start": 396,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917764.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Glu132Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587823.1",
"strand": true,
"transcript": "ENST00000917764.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 692,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2079,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969910.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639969.1",
"strand": true,
"transcript": "ENST00000969910.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 689,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3512,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2070,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969911.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639970.1",
"strand": true,
"transcript": "ENST00000969911.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 685,
"aa_ref": "E",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 476,
"cds_end": null,
"cds_length": 2058,
"cds_start": 396,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917765.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Glu132Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587824.1",
"strand": true,
"transcript": "ENST00000917765.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 680,
"aa_ref": "E",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 502,
"cds_end": null,
"cds_length": 2043,
"cds_start": 396,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881674.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Glu132Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551733.1",
"strand": true,
"transcript": "ENST00000881674.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 674,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 520,
"cds_end": null,
"cds_length": 2025,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917770.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587829.1",
"strand": true,
"transcript": "ENST00000917770.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 670,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2013,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917767.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587826.1",
"strand": true,
"transcript": "ENST00000917767.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 668,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3448,
"cdna_start": 525,
"cds_end": null,
"cds_length": 2007,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382537.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369466.1",
"strand": true,
"transcript": "NM_001382537.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 662,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 523,
"cds_end": null,
"cds_length": 1989,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881687.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551746.1",
"strand": true,
"transcript": "ENST00000881687.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 649,
"aa_ref": "E",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3391,
"cdna_start": 351,
"cds_end": null,
"cds_length": 1950,
"cds_start": 267,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382539.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.267A>T",
"hgvs_p": "p.Glu89Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369468.1",
"strand": true,
"transcript": "NM_001382539.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 644,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1935,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001328685.2",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001315614.1",
"strand": true,
"transcript": "NM_001328685.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 644,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": 565,
"cds_end": null,
"cds_length": 1935,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000881673.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551732.1",
"strand": true,
"transcript": "ENST00000881673.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 637,
"aa_ref": "E",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 351,
"cds_end": null,
"cds_length": 1914,
"cds_start": 267,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382540.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.267A>T",
"hgvs_p": "p.Glu89Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369469.1",
"strand": true,
"transcript": "NM_001382540.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 637,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1914,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917771.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587830.1",
"strand": true,
"transcript": "ENST00000917771.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 566,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1701,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382544.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369473.1",
"strand": true,
"transcript": "NM_001382544.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 504,
"cds_end": null,
"cds_length": 1341,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917773.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587832.1",
"strand": true,
"transcript": "ENST00000917773.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 350,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1053,
"cds_start": 441,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969908.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.441A>T",
"hgvs_p": "p.Glu147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639967.1",
"strand": true,
"transcript": "ENST00000969908.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 157,
"aa_ref": "E",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 560,
"cdna_start": 480,
"cds_end": null,
"cds_length": 476,
"cds_start": 396,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533713.5",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.396A>T",
"hgvs_p": "p.Glu132Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434379.1",
"strand": true,
"transcript": "ENST00000533713.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 607,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": null,
"cds_end": null,
"cds_length": 1824,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382542.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.-28A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369471.1",
"strand": true,
"transcript": "NM_001382542.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 655,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": null,
"cds_end": null,
"cds_length": 1968,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382538.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.328-970A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369467.1",
"strand": true,
"transcript": "NM_001382538.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 611,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": null,
"cds_end": null,
"cds_length": 1836,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382541.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.328-970A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369470.1",
"strand": true,
"transcript": "NM_001382541.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3241,
"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382543.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.328-970A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369472.1",
"strand": true,
"transcript": "NM_001382543.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 548,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": null,
"cds_end": null,
"cds_length": 1647,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382545.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.328-970A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369474.1",
"strand": true,
"transcript": "NM_001382545.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 534,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": null,
"cds_end": null,
"cds_length": 1605,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382546.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.404-5957A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369475.1",
"strand": true,
"transcript": "NM_001382546.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 522,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": null,
"cds_end": null,
"cds_length": 1569,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142278.2",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "c.404-5957A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135750.1",
"strand": true,
"transcript": "NM_001142278.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527702.5",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.351A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000527702.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 537,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000529235.5",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.457A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000529235.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 323,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000529483.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.249A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000529483.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533616.5",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.*23A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434592.1",
"strand": true,
"transcript": "ENST00000533616.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 574,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533618.5",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.540A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000533618.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 585,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000534001.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.340A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000534001.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_024516.2",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.227A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_024516.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_168388.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.525A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_168388.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_168389.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.227A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_168389.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_168390.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.227A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_168390.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3879,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_168391.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.525A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_168391.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_168392.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.525A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_168392.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_168393.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.525A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_168393.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_168394.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.525A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_168394.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533616.5",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.*23A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434592.1",
"strand": true,
"transcript": "ENST00000533616.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526330.5",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.412-970A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000526330.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 573,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000529701.1",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.343-1003A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000529701.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534582.5",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.391-23A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000534582.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534761.5",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.394-23A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000534761.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_024515.2",
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"hgvs_c": "n.267-871A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_024515.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs368746535",
"effect": "missense_variant",
"frequency_reference_population": 0.00004027531,
"gene_hgnc_id": 598,
"gene_symbol": "APLP2",
"gnomad_exomes_ac": 37,
"gnomad_exomes_af": 0.0000253131,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 28,
"gnomad_genomes_af": 0.000183973,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.906,
"pos": 130120743,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.256,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001642.3"
}
]
}