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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: 17-44352760-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44352760&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GRN",
"hgnc_id": 4601,
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_002087.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1",
"acmg_score": -8,
"allele_count_reference_population": 203,
"alphamissense_prediction": null,
"alphamissense_score": 0.0651,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions,Inborn genetic diseases,Neuronal ceroid lipofuscinosis 11,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.019042760133743286,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_002087.4",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000053867.8",
"protein_coding": true,
"protein_id": "NP_002078.1",
"strand": true,
"transcript": "NM_002087.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000053867.8",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002087.4",
"protein_coding": true,
"protein_id": "ENSP00000053867.2",
"strand": true,
"transcript": "ENST00000053867.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 1847,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000900927.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570986.1",
"strand": true,
"transcript": "ENST00000900927.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000900929.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570988.1",
"strand": true,
"transcript": "ENST00000900929.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000900931.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570990.1",
"strand": true,
"transcript": "ENST00000900931.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000900932.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570991.1",
"strand": true,
"transcript": "ENST00000900932.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000918283.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588342.1",
"strand": true,
"transcript": "ENST00000918283.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000918285.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588344.1",
"strand": true,
"transcript": "ENST00000918285.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1860,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000918286.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588345.1",
"strand": true,
"transcript": "ENST00000918286.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000944506.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614565.1",
"strand": true,
"transcript": "ENST00000944506.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 593,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 2024,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000944507.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Ala582Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614566.1",
"strand": true,
"transcript": "ENST00000944507.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 577,
"aa_ref": "A",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000900934.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1696G>A",
"hgvs_p": "p.Ala566Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570993.1",
"strand": true,
"transcript": "ENST00000900934.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 573,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000900930.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Ala562Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570989.1",
"strand": true,
"transcript": "ENST00000900930.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1672,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000900928.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570987.1",
"strand": true,
"transcript": "ENST00000900928.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 568,
"aa_ref": "A",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000900935.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1669G>A",
"hgvs_p": "p.Ala557Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570994.1",
"strand": true,
"transcript": "ENST00000900935.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 558,
"aa_ref": "A",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1639,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000918287.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1639G>A",
"hgvs_p": "p.Ala547Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588346.1",
"strand": true,
"transcript": "ENST00000918287.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 556,
"aa_ref": "A",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 1867,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1633,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000900926.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Ala545Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570985.1",
"strand": true,
"transcript": "ENST00000900926.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1498,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000900933.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Ala500Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570992.1",
"strand": true,
"transcript": "ENST00000900933.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 487,
"aa_ref": "A",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1426,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000918284.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Ala476Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588343.1",
"strand": true,
"transcript": "ENST00000918284.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1300,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000944505.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1300G>A",
"hgvs_p": "p.Ala434Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614564.1",
"strand": true,
"transcript": "ENST00000944505.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 436,
"aa_ref": "A",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
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"feature": "ENST00000589265.5",
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}