← 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: 6-43009328-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43009328&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPP2R5D",
"hgnc_id": 9312,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Glu420Lys",
"inheritance_mode": "AD",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_006245.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9996,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Hogue-Janssens syndrome 1,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9212287664413452,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 602,
"aa_ref": "E",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_006245.4",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Glu420Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000485511.6",
"protein_coding": true,
"protein_id": "NP_006236.1",
"strand": true,
"transcript": "NM_006245.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 602,
"aa_ref": "E",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000485511.6",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Glu420Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006245.4",
"protein_coding": true,
"protein_id": "ENSP00000417963.1",
"strand": true,
"transcript": "ENST00000485511.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 570,
"aa_ref": "E",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2894,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000394110.7",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377669.3",
"strand": true,
"transcript": "ENST00000394110.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1512,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000470467.5",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Glu321Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419756.1",
"strand": true,
"transcript": "ENST00000470467.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 496,
"aa_ref": "E",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1491,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000461010.5",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Glu314Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420674.1",
"strand": true,
"transcript": "ENST00000461010.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 601,
"aa_ref": "E",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2964,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879148.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Glu419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549207.1",
"strand": true,
"transcript": "ENST00000879148.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 600,
"aa_ref": "E",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000935957.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Glu418Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606016.1",
"strand": true,
"transcript": "ENST00000935957.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 594,
"aa_ref": "E",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2963,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1234,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000472118.5",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Glu412Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420550.1",
"strand": true,
"transcript": "ENST00000472118.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 571,
"aa_ref": "E",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000949509.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Glu389Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619568.1",
"strand": true,
"transcript": "ENST00000949509.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 570,
"aa_ref": "E",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_180976.3",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_851307.1",
"strand": true,
"transcript": "NM_180976.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879146.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Glu387Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549205.1",
"strand": true,
"transcript": "ENST00000879146.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 563,
"aa_ref": "E",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879147.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Glu420Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549206.1",
"strand": true,
"transcript": "ENST00000879147.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 552,
"aa_ref": "E",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000949510.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Glu370Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619569.1",
"strand": true,
"transcript": "ENST00000949510.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 531,
"aa_ref": "E",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000949508.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619567.1",
"strand": true,
"transcript": "ENST00000949508.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 521,
"aa_ref": "E",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2730,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000935958.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Glu339Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606017.1",
"strand": true,
"transcript": "ENST00000935958.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 496,
"aa_ref": "E",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1491,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_180977.3",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Glu314Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_851308.1",
"strand": true,
"transcript": "NM_180977.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 463,
"aa_ref": "E",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1392,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949511.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Glu281Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619570.1",
"strand": true,
"transcript": "ENST00000949511.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 451,
"aa_ref": "E",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 1356,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001270476.2",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.805G>A",
"hgvs_p": "p.Glu269Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257405.1",
"strand": true,
"transcript": "NM_001270476.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 152,
"aa_ref": "E",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 462,
"cdna_start": 122,
"cds_end": null,
"cds_length": 461,
"cds_start": 121,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000486843.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Glu41Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420529.1",
"strand": true,
"transcript": "ENST00000486843.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000230402.10",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "n.*939G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000230402.6",
"strand": true,
"transcript": "ENST00000230402.10",
"transcript_support_level": 2
},
{
"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": 583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000482315.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "n.429G>A",
"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": "ENST00000482315.1",
"transcript_support_level": 2
},
{
"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": 3162,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000676174.1",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "n.1579G>A",
"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": "ENST00000676174.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000230402.10",
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"hgvs_c": "n.*939G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000230402.6",
"strand": true,
"transcript": "ENST00000230402.10",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs863225080",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 9312,
"gene_symbol": "PPP2R5D",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": "Pathogenic",
"phenotype_combined": "not provided|Inborn genetic diseases|Hogue-Janssens syndrome 1",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"pos": 43009328,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.656,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_006245.4"
}
]
}