← 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: 14-103102429-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103102429&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EXOC3L4",
"hgnc_id": 20120,
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001077594.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0926,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04117479920387268,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 838,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001077594.2",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000688303.1",
"protein_coding": true,
"protein_id": "NP_001071062.1",
"strand": true,
"transcript": "NM_001077594.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 838,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000688303.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001077594.2",
"protein_coding": true,
"protein_id": "ENSP00000509130.1",
"strand": true,
"transcript": "ENST00000688303.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 782,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000380069.7",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369409.3",
"strand": true,
"transcript": "ENST00000380069.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394941.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381870.1",
"strand": true,
"transcript": "NM_001394941.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 870,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394942.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381871.1",
"strand": true,
"transcript": "NM_001394942.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000687959.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508483.1",
"strand": true,
"transcript": "ENST00000687959.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": 821,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865814.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535873.1",
"strand": true,
"transcript": "ENST00000865814.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 842,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865815.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535874.1",
"strand": true,
"transcript": "ENST00000865815.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865816.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535875.1",
"strand": true,
"transcript": "ENST00000865816.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2839,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865817.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535876.1",
"strand": true,
"transcript": "ENST00000865817.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865818.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535877.1",
"strand": true,
"transcript": "ENST00000865818.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865819.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535878.1",
"strand": true,
"transcript": "ENST00000865819.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865821.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535880.1",
"strand": true,
"transcript": "ENST00000865821.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865822.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535881.1",
"strand": true,
"transcript": "ENST00000865822.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": 789,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865823.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535882.1",
"strand": true,
"transcript": "ENST00000865823.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 874,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865824.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535883.1",
"strand": true,
"transcript": "ENST00000865824.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000953216.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623275.1",
"strand": true,
"transcript": "ENST00000953216.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000953218.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623277.1",
"strand": true,
"transcript": "ENST00000953218.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 892,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953219.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623278.1",
"strand": true,
"transcript": "ENST00000953219.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 716,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 956,
"cds_end": null,
"cds_length": 2151,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865820.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535879.1",
"strand": true,
"transcript": "ENST00000865820.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 716,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 903,
"cds_end": null,
"cds_length": 2151,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953217.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623276.1",
"strand": true,
"transcript": "ENST00000953217.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 716,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 2151,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000953221.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623280.1",
"strand": true,
"transcript": "ENST00000953221.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 665,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1998,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000953220.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623279.1",
"strand": true,
"transcript": "ENST00000953220.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 759,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 2280,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011537333.3",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.817C>G",
"hgvs_p": "p.Arg273Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535635.1",
"strand": true,
"transcript": "XM_011537333.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 831,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011537323.4",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535625.2",
"strand": true,
"transcript": "XM_011537323.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011537329.3",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535631.1",
"strand": true,
"transcript": "XM_011537329.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011537330.3",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535632.1",
"strand": true,
"transcript": "XM_011537330.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 928,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011537331.2",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535633.1",
"strand": true,
"transcript": "XM_011537331.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 2169,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011537332.3",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535634.1",
"strand": true,
"transcript": "XM_011537332.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 716,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 831,
"cds_end": null,
"cds_length": 2151,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011537324.3",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535626.2",
"strand": true,
"transcript": "XM_011537324.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 543,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2939,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1632,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011537334.2",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Arg57Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535636.1",
"strand": true,
"transcript": "XM_011537334.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3063,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1614,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047431921.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Arg57Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287877.1",
"strand": true,
"transcript": "XM_047431921.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 429,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1290,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047431922.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Arg236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287878.1",
"strand": true,
"transcript": "XM_047431922.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 152,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 460,
"cdna_start": null,
"cds_end": null,
"cds_length": 460,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559116.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.287-1512C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454163.1",
"strand": true,
"transcript": "ENST00000559116.1",
"transcript_support_level": 5
},
{
"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": 2341,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000560925.5",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "n.53C>G",
"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": "ENST00000560925.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs762358612",
"effect": "missense_variant",
"frequency_reference_population": 7.327919e-7,
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.32792e-7,
"gnomad_exomes_homalt": 0,
"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": "Benign",
"phylop100way_score": -0.477,
"pos": 103102429,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.039,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001077594.2"
}
]
}