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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: 16-19536412-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19536412&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCP110",
"hgnc_id": 24342,
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001199022.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0914,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.31782615184783936,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5275,
"cdna_start": 905,
"cds_end": null,
"cds_length": 2976,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001323572.2",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000694978.1",
"protein_coding": true,
"protein_id": "NP_001310501.1",
"strand": true,
"transcript": "NM_001323572.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5275,
"cdna_start": 905,
"cds_end": null,
"cds_length": 2976,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000694978.1",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001323572.2",
"protein_coding": true,
"protein_id": "ENSP00000511625.1",
"strand": true,
"transcript": "ENST00000694978.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5446,
"cdna_start": 990,
"cds_end": null,
"cds_length": 3039,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000381396.9",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370803.5",
"strand": true,
"transcript": "ENST00000381396.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8720,
"cdna_start": 4350,
"cds_end": null,
"cds_length": 2976,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000396208.4",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379511.2",
"strand": true,
"transcript": "ENST00000396208.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5549,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 2976,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396212.6",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379515.2",
"strand": true,
"transcript": "ENST00000396212.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5361,
"cdna_start": 905,
"cds_end": null,
"cds_length": 3039,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001199022.3",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185951.2",
"strand": true,
"transcript": "NM_001199022.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5504,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 3039,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001323569.2",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310498.1",
"strand": true,
"transcript": "NM_001323569.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 2976,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001323570.2",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310499.1",
"strand": true,
"transcript": "NM_001323570.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5658,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 2976,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001323571.2",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310500.1",
"strand": true,
"transcript": "NM_001323571.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5418,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 2976,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_014711.6",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055526.4",
"strand": true,
"transcript": "NM_014711.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 2976,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925925.1",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595984.1",
"strand": true,
"transcript": "ENST00000925925.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 991,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4436,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 2976,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925926.1",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595985.1",
"strand": true,
"transcript": "ENST00000925926.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 971,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5358,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 2916,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001323576.2",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310505.1",
"strand": true,
"transcript": "NM_001323576.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 971,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5215,
"cdna_start": 905,
"cds_end": null,
"cds_length": 2916,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001323577.2",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310506.1",
"strand": true,
"transcript": "NM_001323577.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 971,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5263,
"cdna_start": 953,
"cds_end": null,
"cds_length": 2916,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901540.1",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571599.1",
"strand": true,
"transcript": "ENST00000901540.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 971,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5405,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 2916,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925924.1",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595983.1",
"strand": true,
"transcript": "ENST00000925924.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 970,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5212,
"cdna_start": 905,
"cds_end": null,
"cds_length": 2913,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901541.1",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571600.1",
"strand": true,
"transcript": "ENST00000901541.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 950,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4276,
"cdna_start": 891,
"cds_end": null,
"cds_length": 2853,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901542.1",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571601.1",
"strand": true,
"transcript": "ENST00000901542.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5949,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 3039,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011545991.3",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544293.1",
"strand": true,
"transcript": "XM_011545991.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5744,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 3039,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011545992.3",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Leu248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544294.1",
"strand": true,
"transcript": "XM_011545992.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6443,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 3039,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017023908.2",
"gene_hgnc_id": 24342,
"gene_symbol": "CCP110",
"hgvs_c": "c.743T>G",
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