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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: 19-47260379-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47260379&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC9",
"hgnc_id": 24560,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_015603.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000298666",
"hgnc_id": null,
"hgvs_c": "n.277C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000757162.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.2392,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.4044308364391327,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": 323,
"cds_end": null,
"cds_length": 1596,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015603.3",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000221922.11",
"protein_coding": true,
"protein_id": "NP_056418.1",
"strand": true,
"transcript": "NM_015603.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": 323,
"cds_end": null,
"cds_length": 1596,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000221922.11",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015603.3",
"protein_coding": true,
"protein_id": "ENSP00000221922.5",
"strand": true,
"transcript": "ENST00000221922.11",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 325,
"cds_end": null,
"cds_length": 1764,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000643617.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494410.1",
"strand": true,
"transcript": "ENST00000643617.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 325,
"cds_end": null,
"cds_length": 1728,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851059.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521127.1",
"strand": true,
"transcript": "ENST00000851059.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1995,
"cdna_start": 291,
"cds_end": null,
"cds_length": 1596,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925674.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595733.1",
"strand": true,
"transcript": "ENST00000925674.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": 293,
"cds_end": null,
"cds_length": 1593,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925675.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595734.1",
"strand": true,
"transcript": "ENST00000925675.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": 305,
"cds_end": null,
"cds_length": 1569,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000878859.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548918.1",
"strand": true,
"transcript": "ENST00000878859.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1569,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957309.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627368.1",
"strand": true,
"transcript": "ENST00000957309.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 323,
"cds_end": null,
"cds_length": 1566,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000878860.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548919.1",
"strand": true,
"transcript": "ENST00000878860.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 496,
"aa_ref": "R",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 206,
"cds_end": null,
"cds_length": 1491,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000925672.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.62G>A",
"hgvs_p": "p.Arg21Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595731.1",
"strand": true,
"transcript": "ENST00000925672.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 301,
"cds_end": null,
"cds_length": 1338,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925673.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595732.1",
"strand": true,
"transcript": "ENST00000925673.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 127,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 834,
"cdna_start": 616,
"cds_end": null,
"cds_length": 385,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000599398.5",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469717.1",
"strand": true,
"transcript": "ENST00000599398.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 55,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 356,
"cdna_start": 353,
"cds_end": null,
"cds_length": 170,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000595659.5",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470706.1",
"strand": true,
"transcript": "ENST00000595659.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 323,
"cds_end": null,
"cds_length": 1764,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047438580.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294536.1",
"strand": true,
"transcript": "XM_047438580.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 396,
"cds_end": null,
"cds_length": 1764,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047438581.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294537.1",
"strand": true,
"transcript": "XM_047438581.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2623,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1764,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047438582.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294538.1",
"strand": true,
"transcript": "XM_047438582.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 323,
"cds_end": null,
"cds_length": 1728,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047438583.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294539.1",
"strand": true,
"transcript": "XM_047438583.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 396,
"cds_end": null,
"cds_length": 1596,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017026578.2",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882067.1",
"strand": true,
"transcript": "XM_017026578.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1596,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047438584.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294540.1",
"strand": true,
"transcript": "XM_047438584.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 396,
"cds_end": null,
"cds_length": 1518,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047438585.1",
"gene_hgnc_id": 24560,
"gene_symbol": "CCDC9",
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294541.1",
"strand": true,
"transcript": "XM_047438585.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": null,
"cds_end": null,
"cds_length": 1452,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
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{
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}
]
}