← 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: 17-13017853-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=13017853&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ELAC2",
"hgnc_id": 14198,
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018127.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1212,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1436368227005005,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 826,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3767,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2481,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_018127.7",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338034.9",
"protein_coding": true,
"protein_id": "NP_060597.4",
"strand": false,
"transcript": "NM_018127.7",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 826,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3767,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2481,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000338034.9",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018127.7",
"protein_coding": true,
"protein_id": "ENSP00000337445.4",
"strand": false,
"transcript": "ENST00000338034.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 860,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3069,
"cdna_start": 154,
"cds_end": null,
"cds_length": 2583,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000923774.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593833.1",
"strand": false,
"transcript": "ENST00000923774.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 834,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 159,
"cds_end": null,
"cds_length": 2505,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860253.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530312.1",
"strand": false,
"transcript": "ENST00000860253.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 830,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 168,
"cds_end": null,
"cds_length": 2493,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000923773.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593832.1",
"strand": false,
"transcript": "ENST00000923773.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 828,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3782,
"cdna_start": 184,
"cds_end": null,
"cds_length": 2487,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000923771.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593830.1",
"strand": false,
"transcript": "ENST00000923771.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 827,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2484,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860251.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530310.1",
"strand": false,
"transcript": "ENST00000860251.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 826,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2481,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860249.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530308.1",
"strand": false,
"transcript": "ENST00000860249.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 825,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2478,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_173717.2",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_776065.1",
"strand": false,
"transcript": "NM_173717.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 825,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 197,
"cds_end": null,
"cds_length": 2478,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860246.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530305.1",
"strand": false,
"transcript": "ENST00000860246.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 824,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2475,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860247.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530306.1",
"strand": false,
"transcript": "ENST00000860247.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 824,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2475,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000961321.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631380.1",
"strand": false,
"transcript": "ENST00000961321.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 823,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3756,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2472,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000923772.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593831.1",
"strand": false,
"transcript": "ENST00000923772.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 819,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 171,
"cds_end": null,
"cds_length": 2460,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000961322.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631381.1",
"strand": false,
"transcript": "ENST00000961322.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 813,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2926,
"cdna_start": 154,
"cds_end": null,
"cds_length": 2442,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000923775.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593834.1",
"strand": false,
"transcript": "ENST00000923775.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 812,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2439,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860250.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530309.1",
"strand": false,
"transcript": "ENST00000860250.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 811,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 114,
"cds_end": null,
"cds_length": 2436,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860254.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530313.1",
"strand": false,
"transcript": "ENST00000860254.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 807,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 169,
"cds_end": null,
"cds_length": 2424,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000395962.6",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379291.1",
"strand": false,
"transcript": "ENST00000395962.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 804,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 162,
"cds_end": null,
"cds_length": 2415,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860252.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530311.1",
"strand": false,
"transcript": "ENST00000860252.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 184,
"cds_end": null,
"cds_length": 2412,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000961320.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631379.1",
"strand": false,
"transcript": "ENST00000961320.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 786,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2361,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001165962.2",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159434.1",
"strand": false,
"transcript": "NM_001165962.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 786,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 147,
"cds_end": null,
"cds_length": 2361,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000426905.7",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405223.3",
"strand": false,
"transcript": "ENST00000426905.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 785,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 175,
"cds_end": null,
"cds_length": 2358,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860248.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530307.1",
"strand": false,
"transcript": "ENST00000860248.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 785,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 124,
"cds_end": null,
"cds_length": 2358,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000923776.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593835.1",
"strand": false,
"transcript": "ENST00000923776.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 155,
"cds_end": null,
"cds_length": 2355,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000961324.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631383.1",
"strand": false,
"transcript": "ENST00000961324.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 620,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 162,
"cds_end": null,
"cds_length": 1863,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000961323.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631382.1",
"strand": false,
"transcript": "ENST00000961323.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 158,
"aa_ref": "P",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"cdna_start": 114,
"cds_end": null,
"cds_length": 477,
"cds_start": 95,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000578071.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Pro32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477482.1",
"strand": false,
"transcript": "ENST00000578071.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 479,
"cdna_start": null,
"cds_end": null,
"cds_length": 367,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000583371.5",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.-38+138C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464358.1",
"strand": false,
"transcript": "ENST00000583371.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 241,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 866,
"cdna_start": null,
"cds_end": null,
"cds_length": 727,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000609101.5",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.-309C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477044.1",
"strand": true,
"transcript": "ENST00000609101.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 147,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"cdna_start": null,
"cds_end": null,
"cds_length": 444,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000580504.5",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.-324C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463594.1",
"strand": true,
"transcript": "ENST00000580504.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": 397,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000581499.6",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.-394C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463321.2",
"strand": true,
"transcript": "ENST00000581499.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 732,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": null,
"cds_end": null,
"cds_length": 2199,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024450860.2",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.-324C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306628.1",
"strand": true,
"transcript": "XM_024450860.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 732,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": null,
"cds_end": null,
"cds_length": 2199,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024450861.2",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.-309C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306629.1",
"strand": true,
"transcript": "XM_024450861.2",
"transcript_support_level": null
},
{
"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": 3738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000484122.5",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "n.-225C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000484122.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 849,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000609345.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "n.-238C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000609345.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs544551424",
"effect": "missense_variant",
"frequency_reference_population": 0.0000014150517,
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000141505,
"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": 3.117,
"pos": 13017853,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.052,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018127.7"
}
]
}