← 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: 6-53270660-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=53270660&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ELOVL5",
"hgnc_id": 21308,
"hgvs_c": "c.564G>A",
"hgvs_p": "p.Trp188*",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001242830.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.7537,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8076416850090027,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 262,
"aa_ref": "W",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": 935,
"cds_end": null,
"cds_length": 789,
"cds_start": 564,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000542638.5",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.564G>A",
"hgvs_p": "p.Trp188*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440728.2",
"strand": false,
"transcript": "ENST00000542638.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 831,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_021814.5",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304434.11",
"protein_coding": true,
"protein_id": "NP_068586.1",
"strand": false,
"transcript": "NM_021814.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 831,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000304434.11",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021814.5",
"protein_coding": true,
"protein_id": "ENSP00000306640.6",
"strand": false,
"transcript": "ENST00000304434.11",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 262,
"aa_ref": "W",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 706,
"cds_end": null,
"cds_length": 789,
"cds_start": 564,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001242830.2",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.564G>A",
"hgvs_p": "p.Trp188*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229759.1",
"strand": false,
"transcript": "NM_001242830.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 326,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 912,
"cds_end": null,
"cds_length": 981,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001242828.2",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229757.1",
"strand": false,
"transcript": "NM_001242828.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 326,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 981,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000370918.8",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359956.5",
"strand": false,
"transcript": "ENST00000370918.8",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 308,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2792,
"cdna_start": 858,
"cds_end": null,
"cds_length": 927,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000954546.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Gly239Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624605.1",
"strand": false,
"transcript": "ENST00000954546.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001301856.2",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288785.1",
"strand": false,
"transcript": "NM_001301856.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893711.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563770.1",
"strand": false,
"transcript": "ENST00000893711.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 890,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893717.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563776.1",
"strand": false,
"transcript": "ENST00000893717.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 789,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893718.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563777.1",
"strand": false,
"transcript": "ENST00000893718.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": 888,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893719.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563778.1",
"strand": false,
"transcript": "ENST00000893719.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 846,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893720.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563779.1",
"strand": false,
"transcript": "ENST00000893720.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 817,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893721.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563780.1",
"strand": false,
"transcript": "ENST00000893721.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 884,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893722.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563781.1",
"strand": false,
"transcript": "ENST00000893722.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 889,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926657.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596716.1",
"strand": false,
"transcript": "ENST00000926657.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 854,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000954545.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624604.1",
"strand": false,
"transcript": "ENST00000954545.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 869,
"cds_end": null,
"cds_length": 900,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000954548.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624607.1",
"strand": false,
"transcript": "ENST00000954548.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 297,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 842,
"cds_end": null,
"cds_length": 894,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893713.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Gly228Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563772.1",
"strand": false,
"transcript": "ENST00000893713.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 295,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 790,
"cds_end": null,
"cds_length": 888,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893716.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563775.1",
"strand": false,
"transcript": "ENST00000893716.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2675,
"cdna_start": 742,
"cds_end": null,
"cds_length": 822,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000893714.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Gly204Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563773.1",
"strand": false,
"transcript": "ENST00000893714.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 753,
"cds_end": null,
"cds_length": 822,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000926656.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Gly204Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596715.1",
"strand": false,
"transcript": "ENST00000926656.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 235,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 683,
"cds_end": null,
"cds_length": 708,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926654.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Gly166Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596713.1",
"strand": false,
"transcript": "ENST00000926654.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 200,
"aa_ref": "G",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 590,
"cds_end": null,
"cds_length": 603,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926653.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Gly131Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596712.1",
"strand": false,
"transcript": "ENST00000926653.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 174,
"aa_ref": "G",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 427,
"cds_end": null,
"cds_length": 525,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893715.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Gly105Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563774.1",
"strand": false,
"transcript": "ENST00000893715.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 271,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": null,
"cds_end": null,
"cds_length": 816,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926655.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.622-17G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596714.1",
"strand": false,
"transcript": "ENST00000926655.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 254,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": null,
"cds_end": null,
"cds_length": 765,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893712.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.622-1390G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563771.1",
"strand": false,
"transcript": "ENST00000893712.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 254,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": null,
"cds_end": null,
"cds_length": 765,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954547.1",
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"hgvs_c": "c.622-1390G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624606.1",
"strand": false,
"transcript": "ENST00000954547.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587777670",
"effect": "stop_gained",
"frequency_reference_population": 0.0000013681295,
"gene_hgnc_id": 21308,
"gene_symbol": "ELOVL5",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136813,
"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": "Pathogenic",
"phylop100way_score": 7.903,
"pos": 53270660,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.512,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001242830.2"
}
]
}