← 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: 22-29330429-GCC-CCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29330429&ref=GCC&alt=CCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AP1B1",
"hgnc_id": 554,
"hgvs_c": "c.2713_2715delGGCinsAGG",
"hgvs_p": "p.Gly905Arg",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001127.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 949,
"aa_ref": "G",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 2850,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127.4",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2713_2715delGGCinsAGG",
"hgvs_p": "p.Gly905Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357586.7",
"protein_coding": true,
"protein_id": "NP_001118.3",
"strand": false,
"transcript": "NM_001127.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 949,
"aa_ref": "G",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 2850,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357586.7",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2713_2715delGGCinsAGG",
"hgvs_p": "p.Gly905Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127.4",
"protein_coding": true,
"protein_id": "ENSP00000350199.2",
"strand": false,
"transcript": "ENST00000357586.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 919,
"aa_ref": "G",
"aa_start": 878,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": 2821,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2632,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000317368.11",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2632_2634delGGCinsAGG",
"hgvs_p": "p.Gly878Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319361.7",
"strand": false,
"transcript": "ENST00000317368.11",
"transcript_support_level": 1
},
{
"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": 3560,
"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": "ENST00000482818.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "n.809_811delGGCinsAGG",
"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": "ENST00000482818.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "G",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4325,
"cdna_start": 3058,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2902,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921604.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2902_2904delGGCinsAGG",
"hgvs_p": "p.Gly968Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591663.1",
"strand": false,
"transcript": "ENST00000921604.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "G",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4090,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 2976,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852348.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2692_2694delGGCinsAGG",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522407.1",
"strand": false,
"transcript": "ENST00000852348.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 964,
"aa_ref": "G",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": 2910,
"cds_end": null,
"cds_length": 2895,
"cds_start": 2767,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921609.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2767_2769delGGCinsAGG",
"hgvs_p": "p.Gly923Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591668.1",
"strand": false,
"transcript": "ENST00000921609.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 948,
"aa_ref": "G",
"aa_start": 907,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 2877,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2719,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852346.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2719_2721delGGCinsAGG",
"hgvs_p": "p.Gly907Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522405.1",
"strand": false,
"transcript": "ENST00000852346.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 946,
"aa_ref": "G",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4156,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378562.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2713_2715delGGCinsAGG",
"hgvs_p": "p.Gly905Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365491.1",
"strand": false,
"transcript": "NM_001378562.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 946,
"aa_ref": "G",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4198,
"cdna_start": 2931,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852342.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2713_2715delGGCinsAGG",
"hgvs_p": "p.Gly905Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522401.1",
"strand": false,
"transcript": "ENST00000852342.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 946,
"aa_ref": "G",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 2993,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852350.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2713_2715delGGCinsAGG",
"hgvs_p": "p.Gly905Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522409.1",
"strand": false,
"transcript": "ENST00000852350.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 942,
"aa_ref": "G",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4144,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378563.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2692_2694delGGCinsAGG",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365492.1",
"strand": false,
"transcript": "NM_001378563.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 939,
"aa_ref": "G",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4135,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_145730.3",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2692_2694delGGCinsAGG",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663782.2",
"strand": false,
"transcript": "NM_145730.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 939,
"aa_ref": "G",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000405198.6",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2692_2694delGGCinsAGG",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384194.2",
"strand": false,
"transcript": "ENST00000405198.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 939,
"aa_ref": "G",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432560.6",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2692_2694delGGCinsAGG",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400065.2",
"strand": false,
"transcript": "ENST00000432560.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 939,
"aa_ref": "G",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4127,
"cdna_start": 2860,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852344.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2692_2694delGGCinsAGG",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522403.1",
"strand": false,
"transcript": "ENST00000852344.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 939,
"aa_ref": "G",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3970,
"cdna_start": 2879,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852347.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2692_2694delGGCinsAGG",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522406.1",
"strand": false,
"transcript": "ENST00000852347.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 939,
"aa_ref": "G",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 2783,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852351.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2692_2694delGGCinsAGG",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522410.1",
"strand": false,
"transcript": "ENST00000852351.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 938,
"aa_ref": "G",
"aa_start": 897,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2689,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852349.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2689_2691delGGCinsAGG",
"hgvs_p": "p.Gly897Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522408.1",
"strand": false,
"transcript": "ENST00000852349.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 937,
"aa_ref": "G",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4127,
"cdna_start": 2862,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2686,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921603.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2686_2688delGGCinsAGG",
"hgvs_p": "p.Gly896Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591662.1",
"strand": false,
"transcript": "ENST00000921603.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 935,
"aa_ref": "G",
"aa_start": 894,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3922,
"cdna_start": 2831,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2680,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921606.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2680_2682delGGCinsAGG",
"hgvs_p": "p.Gly894Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591665.1",
"strand": false,
"transcript": "ENST00000921606.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 935,
"aa_ref": "G",
"aa_start": 894,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 2800,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2680,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952519.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2680_2682delGGCinsAGG",
"hgvs_p": "p.Gly894Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622578.1",
"strand": false,
"transcript": "ENST00000952519.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 931,
"aa_ref": "G",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3902,
"cdna_start": 2811,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2668,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921611.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2668_2670delGGCinsAGG",
"hgvs_p": "p.Gly890Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591670.1",
"strand": false,
"transcript": "ENST00000921611.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 926,
"aa_ref": "G",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3934,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2653,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852345.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2653_2655delGGCinsAGG",
"hgvs_p": "p.Gly885Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522404.1",
"strand": false,
"transcript": "ENST00000852345.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 919,
"aa_ref": "G",
"aa_start": 878,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4075,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2632,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001166019.2",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2632_2634delGGCinsAGG",
"hgvs_p": "p.Gly878Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159491.1",
"strand": false,
"transcript": "NM_001166019.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 919,
"aa_ref": "G",
"aa_start": 878,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3865,
"cdna_start": 2774,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2632,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921607.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2632_2634delGGCinsAGG",
"hgvs_p": "p.Gly878Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591666.1",
"strand": false,
"transcript": "ENST00000921607.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 912,
"aa_ref": "G",
"aa_start": 871,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3847,
"cdna_start": 2756,
"cds_end": null,
"cds_length": 2739,
"cds_start": 2611,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921608.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2611_2613delGGCinsAGG",
"hgvs_p": "p.Gly871Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591667.1",
"strand": false,
"transcript": "ENST00000921608.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 899,
"aa_ref": "G",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 2715,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2572,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921610.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2572_2574delGGCinsAGG",
"hgvs_p": "p.Gly858Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591669.1",
"strand": false,
"transcript": "ENST00000921610.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 891,
"aa_ref": "G",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3808,
"cdna_start": 2720,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2548,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921605.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2548_2550delGGCinsAGG",
"hgvs_p": "p.Gly850Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591664.1",
"strand": false,
"transcript": "ENST00000921605.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 889,
"aa_ref": "G",
"aa_start": 848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4050,
"cdna_start": 2783,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2542,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378564.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2542_2544delGGCinsAGG",
"hgvs_p": "p.Gly848Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365493.1",
"strand": false,
"transcript": "NM_001378564.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 885,
"aa_ref": "G",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 2658,
"cds_start": 2521,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378565.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2521_2523delGGCinsAGG",
"hgvs_p": "p.Gly841Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365494.1",
"strand": false,
"transcript": "NM_001378565.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 877,
"aa_ref": "G",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 2634,
"cds_start": 2506,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378566.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2506_2508delGGCinsAGG",
"hgvs_p": "p.Gly836Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365495.1",
"strand": false,
"transcript": "NM_001378566.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3897,
"cdna_start": 2630,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2434,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852343.1",
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"hgvs_c": "c.2434_2436delGGCinsAGG",
"hgvs_p": "p.Gly812Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522402.1",
"strand": false,
"transcript": "ENST00000852343.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 554,
"gene_symbol": "AP1B1",
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.9,
"pos": 29330429,
"ref": "GCC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001127.4"
}
]
}