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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: 8-43182162-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=43182162&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM5",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HGSNAT",
"hgnc_id": 26527,
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001363227.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM5,PP3_Strong,PP5",
"acmg_score": 11,
"allele_count_reference_population": 26,
"alphamissense_prediction": null,
"alphamissense_score": 0.8647,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.45,
"chr": "8",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " MPS-III-C,Mucopolysaccharidosis,Retinal dystrophy,Retinitis pigmentosa 73,Sanfilippo syndrome,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:5 US:1 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9520341753959656,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 635,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5227,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_152419.3",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379644.9",
"protein_coding": true,
"protein_id": "NP_689632.2",
"strand": true,
"transcript": "NM_152419.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 635,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5227,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000379644.9",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152419.3",
"protein_coding": true,
"protein_id": "ENSP00000368965.4",
"strand": true,
"transcript": "ENST00000379644.9",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 702,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 2109,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902460.1",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572519.1",
"strand": true,
"transcript": "ENST00000902460.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5314,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001363227.2",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350156.1",
"strand": true,
"transcript": "NM_001363227.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5378,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902456.1",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572515.1",
"strand": true,
"transcript": "ENST00000902456.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 652,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000902461.1",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572520.1",
"strand": true,
"transcript": "ENST00000902461.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 636,
"aa_ref": "R",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000902463.1",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572522.1",
"strand": true,
"transcript": "ENST00000902463.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 634,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967241.1",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637300.1",
"strand": true,
"transcript": "ENST00000967241.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 633,
"aa_ref": "R",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5211,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902458.1",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Arg342Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572517.1",
"strand": true,
"transcript": "ENST00000902458.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 608,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4136,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1827,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902459.1",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572518.1",
"strand": true,
"transcript": "ENST00000902459.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5035,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1716,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001363228.2",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350157.1",
"strand": true,
"transcript": "NM_001363228.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1716,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902457.1",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572516.1",
"strand": true,
"transcript": "ENST00000902457.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 352,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 468,
"cds_end": null,
"cds_length": 1059,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000521576.1",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429029.1",
"strand": true,
"transcript": "ENST00000521576.1",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5196,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1044,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001363229.2",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350158.1",
"strand": true,
"transcript": "NM_001363229.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 337,
"aa_ref": "R",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": 136,
"cds_end": null,
"cds_length": 1014,
"cds_start": 136,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000902462.1",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572521.1",
"strand": true,
"transcript": "ENST00000902462.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 251,
"aa_ref": "R",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": 134,
"cds_end": null,
"cds_length": 756,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000524016.5",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428322.1",
"strand": true,
"transcript": "ENST00000524016.5",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 183,
"aa_ref": "R",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 560,
"cdna_start": 279,
"cds_end": null,
"cds_length": 552,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000522082.5",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Arg91Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430151.1",
"strand": true,
"transcript": "ENST00000522082.5",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 672,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5338,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005273409.2",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005273466.1",
"strand": true,
"transcript": "XM_005273409.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 608,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5146,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1827,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_005273411.2",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005273468.1",
"strand": true,
"transcript": "XM_005273411.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005273412.5",
"gene_hgnc_id": 26527,
"gene_symbol": "HGSNAT",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005273469.1",
"strand": true,
"transcript": "XM_005273412.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4525,
"cdna_start": 250,
"cds_end": null,
"cds_length": 1155,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047421388.1",
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]
}