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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: 16-89709273-TCC-CCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89709273&ref=TCC&alt=CCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "VPS9D1",
"hgnc_id": 13526,
"hgvs_c": "c.1549_1551delGGAinsCGG",
"hgvs_p": "p.Gly517Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004913.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004913.3",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1549_1551delGGAinsCGG",
"hgvs_p": "p.Gly517Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389386.8",
"protein_coding": true,
"protein_id": "NP_004904.2",
"strand": false,
"transcript": "NM_004913.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389386.8",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1549_1551delGGAinsCGG",
"hgvs_p": "p.Gly517Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004913.3",
"protein_coding": true,
"protein_id": "ENSP00000374037.3",
"strand": false,
"transcript": "ENST00000389386.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 561,
"aa_ref": "G",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561976.5",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1339_1341delGGAinsCGG",
"hgvs_p": "p.Gly447Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454244.1",
"strand": false,
"transcript": "ENST00000561976.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 646,
"aa_ref": "G",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 1928,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1594,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906741.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1594_1596delGGAinsCGG",
"hgvs_p": "p.Gly532Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576800.1",
"strand": false,
"transcript": "ENST00000906741.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 646,
"aa_ref": "G",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1594,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906743.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1594_1596delGGAinsCGG",
"hgvs_p": "p.Gly532Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576802.1",
"strand": false,
"transcript": "ENST00000906743.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 644,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1588,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906740.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1588_1590delGGAinsCGG",
"hgvs_p": "p.Gly530Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576799.1",
"strand": false,
"transcript": "ENST00000906740.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 629,
"aa_ref": "G",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1551,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1543,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906745.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1543_1545delGGAinsCGG",
"hgvs_p": "p.Gly515Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576804.1",
"strand": false,
"transcript": "ENST00000906745.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962839.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1513_1515delGGAinsCGG",
"hgvs_p": "p.Gly505Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632898.1",
"strand": false,
"transcript": "ENST00000962839.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 618,
"aa_ref": "G",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906744.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1510_1512delGGAinsCGG",
"hgvs_p": "p.Gly504Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576803.1",
"strand": false,
"transcript": "ENST00000906744.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 609,
"aa_ref": "G",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2623,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962838.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1483_1485delGGAinsCGG",
"hgvs_p": "p.Gly495Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632897.1",
"strand": false,
"transcript": "ENST00000962838.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1456,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906742.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1456_1458delGGAinsCGG",
"hgvs_p": "p.Gly486Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576801.1",
"strand": false,
"transcript": "ENST00000906742.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 596,
"aa_ref": "G",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962837.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1549_1551delGGAinsCGG",
"hgvs_p": "p.Gly517Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632896.1",
"strand": false,
"transcript": "ENST00000962837.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 775,
"cdna_start": 353,
"cds_end": null,
"cds_length": 696,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000565023.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.349_351delGGAinsCGG",
"hgvs_p": "p.Gly117Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455792.1",
"strand": false,
"transcript": "ENST00000565023.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 645,
"aa_ref": "G",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 1630,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1591,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434930.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1591_1593delGGAinsCGG",
"hgvs_p": "p.Gly531Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290886.1",
"strand": false,
"transcript": "XM_047434930.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 644,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1588,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434931.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1588_1590delGGAinsCGG",
"hgvs_p": "p.Gly530Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290887.1",
"strand": false,
"transcript": "XM_047434931.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 632,
"aa_ref": "G",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005256329.6",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1552_1554delGGAinsCGG",
"hgvs_p": "p.Gly518Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005256386.1",
"strand": false,
"transcript": "XM_005256329.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011523476.4",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1549_1551delGGAinsCGG",
"hgvs_p": "p.Gly517Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521778.1",
"strand": false,
"transcript": "XM_011523476.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 630,
"aa_ref": "G",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434932.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1546_1548delGGAinsCGG",
"hgvs_p": "p.Gly516Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290888.1",
"strand": false,
"transcript": "XM_047434932.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 611,
"aa_ref": "G",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1489,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434933.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1489_1491delGGAinsCGG",
"hgvs_p": "p.Gly497Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290889.1",
"strand": false,
"transcript": "XM_047434933.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 610,
"aa_ref": "G",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434934.1",
"gene_hgnc_id": 13526,
"gene_symbol": "VPS9D1",
"hgvs_c": "c.1486_1488delGGAinsCGG",
"hgvs_p": "p.Gly496Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290890.1",
"strand": false,
"transcript": "XM_047434934.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 610,
"aa_ref": "G",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2597,
"cdna_start": 1630,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1591,
"consequences": [
"missense_variant"
],
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