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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: 22-19971950-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19971950&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARVCF",
"hgnc_id": 728,
"hgvs_c": "c.2717G>C",
"hgvs_p": "p.Arg906Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001670.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0878,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5090919733047485,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 962,
"aa_ref": "R",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": 3024,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2717,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001670.3",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2717G>C",
"hgvs_p": "p.Arg906Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263207.8",
"protein_coding": true,
"protein_id": "NP_001661.1",
"strand": false,
"transcript": "NM_001670.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 962,
"aa_ref": "R",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": 3024,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2717,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000263207.8",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2717G>C",
"hgvs_p": "p.Arg906Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001670.3",
"protein_coding": true,
"protein_id": "ENSP00000263207.3",
"strand": false,
"transcript": "ENST00000263207.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4510,
"cdna_start": 3006,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2699,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001438684.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2699G>C",
"hgvs_p": "p.Arg900Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425613.1",
"strand": false,
"transcript": "NM_001438684.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 2699,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2699,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000406259.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2699G>C",
"hgvs_p": "p.Arg900Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385444.1",
"strand": false,
"transcript": "ENST00000406259.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 951,
"aa_ref": "R",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4385,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2684,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001438685.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2684G>C",
"hgvs_p": "p.Arg895Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425614.1",
"strand": false,
"transcript": "NM_001438685.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 951,
"aa_ref": "R",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 2948,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2684,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000852538.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2684G>C",
"hgvs_p": "p.Arg895Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522597.1",
"strand": false,
"transcript": "ENST00000852538.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 938,
"aa_ref": "R",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3920,
"cdna_start": 2892,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000934103.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2645G>C",
"hgvs_p": "p.Arg882Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604162.1",
"strand": false,
"transcript": "ENST00000934103.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 935,
"aa_ref": "R",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": 3024,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2717,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001438687.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2717G>C",
"hgvs_p": "p.Arg906Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425616.1",
"strand": false,
"transcript": "NM_001438687.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 929,
"aa_ref": "R",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3918,
"cdna_start": 3006,
"cds_end": null,
"cds_length": 2790,
"cds_start": 2699,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001438690.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2699G>C",
"hgvs_p": "p.Arg900Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425619.1",
"strand": false,
"transcript": "NM_001438690.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2684,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001438693.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2684G>C",
"hgvs_p": "p.Arg895Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425622.1",
"strand": false,
"transcript": "NM_001438693.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 899,
"aa_ref": "R",
"aa_start": 843,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2528,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000401994.5",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2528G>C",
"hgvs_p": "p.Arg843Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384341.1",
"strand": false,
"transcript": "ENST00000401994.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 893,
"aa_ref": "R",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4007,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2510,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001410839.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2510G>C",
"hgvs_p": "p.Arg837Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397768.1",
"strand": false,
"transcript": "NM_001410839.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 893,
"aa_ref": "R",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2510,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001438683.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2510G>C",
"hgvs_p": "p.Arg837Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425612.1",
"strand": false,
"transcript": "NM_001438683.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 893,
"aa_ref": "R",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2510,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000406522.5",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2510G>C",
"hgvs_p": "p.Arg837Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384732.1",
"strand": false,
"transcript": "ENST00000406522.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 866,
"aa_ref": "R",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2510,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001438694.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2510G>C",
"hgvs_p": "p.Arg837Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425623.1",
"strand": false,
"transcript": "NM_001438694.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "R",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5164,
"cdna_start": 3024,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2717,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_006724243.4",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2717G>C",
"hgvs_p": "p.Arg906Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724306.1",
"strand": false,
"transcript": "XM_006724243.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 998,
"aa_ref": "R",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5146,
"cdna_start": 3006,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2699,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_005261242.4",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2699G>C",
"hgvs_p": "p.Arg900Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005261299.1",
"strand": false,
"transcript": "XM_005261242.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 993,
"aa_ref": "R",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2684,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011530179.4",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2684G>C",
"hgvs_p": "p.Arg895Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528481.1",
"strand": false,
"transcript": "XM_011530179.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 962,
"aa_ref": "R",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4418,
"cdna_start": 3024,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2717,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011530180.2",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2717G>C",
"hgvs_p": "p.Arg906Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528482.1",
"strand": false,
"transcript": "XM_011530180.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 962,
"aa_ref": "R",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4528,
"cdna_start": 3024,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2717,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047441367.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2717G>C",
"hgvs_p": "p.Arg906Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297323.1",
"strand": false,
"transcript": "XM_047441367.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4400,
"cdna_start": 3006,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2699,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047441369.1",
"gene_hgnc_id": 728,
"gene_symbol": "ARVCF",
"hgvs_c": "c.2699G>C",
"hgvs_p": "p.Arg900Pro",
"intron_rank": null,
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