← 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: 1-113896403-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113896403&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "AP4B1",
"hgnc_id": 572,
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_006594.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "AP4B1-AS1",
"hgnc_id": 44114,
"hgvs_c": "n.247-1465A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 7,
"score": 7,
"transcript": "ENST00000419536.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Hereditary spastic paraplegia 47",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001253852.3",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369569.6",
"protein_coding": true,
"protein_id": "NP_001240781.1",
"strand": false,
"transcript": "NM_001253852.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000369569.6",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001253852.3",
"protein_coding": true,
"protein_id": "ENSP00000358582.1",
"strand": false,
"transcript": "ENST00000369569.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000256658.8",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000256658.4",
"strand": false,
"transcript": "ENST00000256658.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 781,
"aa_ref": "Y",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1491,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863127.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1491T>A",
"hgvs_p": "p.Tyr497*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533186.1",
"strand": false,
"transcript": "ENST00000863127.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001438373.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425302.1",
"strand": false,
"transcript": "NM_001438373.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006594.5",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006585.2",
"strand": false,
"transcript": "NM_006594.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2730,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000369571.3",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358584.3",
"strand": false,
"transcript": "ENST00000369571.3",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713590.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518886.1",
"strand": false,
"transcript": "ENST00000713590.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713645.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518947.1",
"strand": false,
"transcript": "ENST00000713645.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 739,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000935535.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605594.1",
"strand": false,
"transcript": "ENST00000935535.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 693,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 1472,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000935541.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605600.1",
"strand": false,
"transcript": "ENST00000935541.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 664,
"aa_ref": "Y",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1140,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001437822.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1140T>A",
"hgvs_p": "p.Tyr380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424751.1",
"strand": false,
"transcript": "NM_001437822.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 664,
"aa_ref": "Y",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1140,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000369564.6",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1140T>A",
"hgvs_p": "p.Tyr380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358577.2",
"strand": false,
"transcript": "ENST00000369564.6",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 664,
"aa_ref": "Y",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1140,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000935536.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1140T>A",
"hgvs_p": "p.Tyr380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605595.1",
"strand": false,
"transcript": "ENST00000935536.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 664,
"aa_ref": "Y",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1140,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000935543.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1140T>A",
"hgvs_p": "p.Tyr380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605602.1",
"strand": false,
"transcript": "ENST00000935543.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 646,
"aa_ref": "Y",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 1249,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1086,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438374.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1086T>A",
"hgvs_p": "p.Tyr362*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425303.1",
"strand": false,
"transcript": "NM_001438374.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 646,
"aa_ref": "Y",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1086,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863120.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1086T>A",
"hgvs_p": "p.Tyr362*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533179.1",
"strand": false,
"transcript": "ENST00000863120.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 646,
"aa_ref": "Y",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1086,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863129.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1086T>A",
"hgvs_p": "p.Tyr362*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533188.1",
"strand": false,
"transcript": "ENST00000863129.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 645,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863121.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533180.1",
"strand": false,
"transcript": "ENST00000863121.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 645,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863123.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533182.1",
"strand": false,
"transcript": "ENST00000863123.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 645,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1365,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863128.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1365T>A",
"hgvs_p": "p.Tyr455*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533187.1",
"strand": false,
"transcript": "ENST00000863128.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Y",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1068,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001253853.3",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1068T>A",
"hgvs_p": "p.Tyr356*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240782.1",
"strand": false,
"transcript": "NM_001253853.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 618,
"aa_ref": "Y",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1140,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000935538.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1140T>A",
"hgvs_p": "p.Tyr380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605597.1",
"strand": false,
"transcript": "ENST00000935538.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 617,
"aa_ref": "Y",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1854,
"cds_start": 999,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863126.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.999T>A",
"hgvs_p": "p.Tyr333*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533185.1",
"strand": false,
"transcript": "ENST00000863126.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 613,
"aa_ref": "Y",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 1842,
"cds_start": 987,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000935537.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.987T>A",
"hgvs_p": "p.Tyr329*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605596.1",
"strand": false,
"transcript": "ENST00000935537.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 571,
"aa_ref": "Y",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1716,
"cds_start": 861,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001308312.2",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.861T>A",
"hgvs_p": "p.Tyr287*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295241.1",
"strand": false,
"transcript": "NM_001308312.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 571,
"aa_ref": "Y",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1716,
"cds_start": 861,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438376.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.861T>A",
"hgvs_p": "p.Tyr287*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425305.1",
"strand": false,
"transcript": "NM_001438376.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 571,
"aa_ref": "Y",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1716,
"cds_start": 861,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000369567.6",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.861T>A",
"hgvs_p": "p.Tyr287*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358580.1",
"strand": false,
"transcript": "ENST00000369567.6",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 571,
"aa_ref": "Y",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1716,
"cds_start": 861,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000432415.6",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.861T>A",
"hgvs_p": "p.Tyr287*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393622.2",
"strand": false,
"transcript": "ENST00000432415.6",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 571,
"aa_ref": "Y",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1716,
"cds_start": 861,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935534.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.861T>A",
"hgvs_p": "p.Tyr287*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605593.1",
"strand": false,
"transcript": "ENST00000935534.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 571,
"aa_ref": "Y",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1716,
"cds_start": 861,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000970395.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.861T>A",
"hgvs_p": "p.Tyr287*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640454.1",
"strand": false,
"transcript": "ENST00000970395.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 552,
"aa_ref": "Y",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1086,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863131.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1086T>A",
"hgvs_p": "p.Tyr362*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533190.1",
"strand": false,
"transcript": "ENST00000863131.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 477,
"aa_ref": "Y",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1434,
"cds_start": 861,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935540.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.861T>A",
"hgvs_p": "p.Tyr287*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605599.1",
"strand": false,
"transcript": "ENST00000935540.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 477,
"aa_ref": "Y",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1434,
"cds_start": 861,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970398.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.861T>A",
"hgvs_p": "p.Tyr287*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640457.1",
"strand": false,
"transcript": "ENST00000970398.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 449,
"aa_ref": "Y",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1350,
"cds_start": 495,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863125.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.495T>A",
"hgvs_p": "p.Tyr165*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533184.1",
"strand": false,
"transcript": "ENST00000863125.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 533,
"aa_ref": "Y",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 817,
"cds_end": null,
"cds_length": 1602,
"cds_start": 747,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439008.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.747T>A",
"hgvs_p": "p.Tyr249*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294964.1",
"strand": false,
"transcript": "XM_047439008.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 414,
"aa_ref": "Y",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 487,
"cds_end": null,
"cds_length": 1245,
"cds_start": 390,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047439078.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.390T>A",
"hgvs_p": "p.Tyr130*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295034.1",
"strand": false,
"transcript": "XM_047439078.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 679,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": null,
"cds_end": null,
"cds_length": 2040,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863132.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1331-365T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533191.1",
"strand": false,
"transcript": "ENST00000863132.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 679,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": null,
"cds_end": null,
"cds_length": 2040,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970396.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1331-365T>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640455.1",
"strand": false,
"transcript": "ENST00000970396.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 635,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2942,
"cdna_start": null,
"cds_end": null,
"cds_length": 1908,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438375.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1199-365T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425304.1",
"strand": false,
"transcript": "NM_001438375.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 635,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": null,
"cds_end": null,
"cds_length": 1908,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863122.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1199-365T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533181.1",
"strand": false,
"transcript": "ENST00000863122.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 635,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": null,
"cds_end": null,
"cds_length": 1908,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863124.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1199-365T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533183.1",
"strand": false,
"transcript": "ENST00000863124.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 560,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": null,
"cds_end": null,
"cds_length": 1683,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438377.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.974-365T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425306.1",
"strand": false,
"transcript": "NM_001438377.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 560,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": null,
"cds_end": null,
"cds_length": 1683,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863130.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.974-365T>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533189.1",
"strand": false,
"transcript": "ENST00000863130.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 542,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": null,
"cds_end": null,
"cds_length": 1629,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438378.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.920-365T>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425307.1",
"strand": false,
"transcript": "NM_001438378.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 542,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": null,
"cds_end": null,
"cds_length": 1629,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970399.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.920-365T>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640458.1",
"strand": false,
"transcript": "ENST00000970399.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935539.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1199-911T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605598.1",
"strand": false,
"transcript": "ENST00000935539.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970397.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1199-911T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640456.1",
"strand": false,
"transcript": "ENST00000970397.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": null,
"cds_end": null,
"cds_length": 1404,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438379.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.695-365T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425308.1",
"strand": false,
"transcript": "NM_001438379.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": null,
"cds_end": null,
"cds_length": 1404,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935544.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.695-365T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605603.1",
"strand": false,
"transcript": "ENST00000935544.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 373,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1366,
"cdna_start": null,
"cds_end": null,
"cds_length": 1122,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935542.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.695-911T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605601.1",
"strand": false,
"transcript": "ENST00000935542.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 453,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": null,
"cds_end": null,
"cds_length": 1362,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439052.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "c.1303-365T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295008.1",
"strand": false,
"transcript": "XM_047439052.1",
"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": 3401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000460653.2",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*435T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518881.1",
"strand": false,
"transcript": "ENST00000460653.2",
"transcript_support_level": 3
},
{
"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": 2661,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000462591.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.1537T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000462591.1",
"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": 1940,
"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": "ENST00000479285.5",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.593T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000479285.5",
"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": 557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000479801.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.199T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000479801.1",
"transcript_support_level": 2
},
{
"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": 2099,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000484201.6",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*115T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518883.1",
"strand": false,
"transcript": "ENST00000484201.6",
"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": 2505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000489499.6",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*707T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518882.1",
"strand": false,
"transcript": "ENST00000489499.6",
"transcript_support_level": 2
},
{
"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": 3442,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713588.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*476T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518880.1",
"strand": false,
"transcript": "ENST00000713588.1",
"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": 2869,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713646.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*115T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518948.1",
"strand": false,
"transcript": "ENST00000713646.1",
"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": 2935,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713647.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*250T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518949.1",
"strand": false,
"transcript": "ENST00000713647.1",
"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": 2860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713648.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*10T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518950.1",
"strand": false,
"transcript": "ENST00000713648.1",
"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": 2405,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713649.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*115T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518951.1",
"strand": false,
"transcript": "ENST00000713649.1",
"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": 2400,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713650.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*881T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518952.1",
"strand": false,
"transcript": "ENST00000713650.1",
"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": 3401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000460653.2",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*435T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518881.1",
"strand": false,
"transcript": "ENST00000460653.2",
"transcript_support_level": 3
},
{
"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": 2099,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000484201.6",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*115T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518883.1",
"strand": false,
"transcript": "ENST00000484201.6",
"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": 2505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000489499.6",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*707T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518882.1",
"strand": false,
"transcript": "ENST00000489499.6",
"transcript_support_level": 2
},
{
"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": 3442,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713588.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*476T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518880.1",
"strand": false,
"transcript": "ENST00000713588.1",
"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": 2869,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713646.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*115T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518948.1",
"strand": false,
"transcript": "ENST00000713646.1",
"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": 2935,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713647.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*250T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518949.1",
"strand": false,
"transcript": "ENST00000713647.1",
"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": 2860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713648.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*10T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518950.1",
"strand": false,
"transcript": "ENST00000713648.1",
"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": 2405,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713649.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*115T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518951.1",
"strand": false,
"transcript": "ENST00000713649.1",
"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": 2400,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713650.1",
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"hgvs_c": "n.*881T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518952.1",
"strand": false,
"transcript": "ENST00000713650.1",
"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": 1734,
"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": "ENST00000419536.1",
"gene_hgnc_id": 44114,
"gene_symbol": "AP4B1-AS1",
"hgvs_c": "n.247-1465A>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": "ENST00000419536.1",
"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": 1566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000717022.1",
"gene_hgnc_id": 44114,
"gene_symbol": "AP4B1-AS1",
"hgvs_c": "n.519+1165A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000717022.1",
"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": 1734,
"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": "NR_037864.1",
"gene_hgnc_id": 44114,
"gene_symbol": "AP4B1-AS1",
"hgvs_c": "n.247-1465A>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": "NR_037864.1",
"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": 1902,
"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": "NR_125965.1",
"gene_hgnc_id": 44114,
"gene_symbol": "AP4B1-AS1",
"hgvs_c": "n.415-1465A>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": "NR_125965.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs114201291",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 572,
"gene_symbol": "AP4B1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Hereditary spastic paraplegia 47",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.178,
"pos": 113896403,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006594.5"
}
]
}