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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: 17-28616989-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28616989&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BLTP2",
"hgnc_id": 28960,
"hgvs_c": "c.5921G>A",
"hgvs_p": "p.Arg1974Gln",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_014680.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SPAG5-AS1",
"hgnc_id": 41140,
"hgvs_c": "n.1755C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000414744.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.1174,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6098943948745728,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2235,
"aa_ref": "R",
"aa_start": 1974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7428,
"cdna_start": 6023,
"cds_end": null,
"cds_length": 6708,
"cds_start": 5921,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_014680.5",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5921G>A",
"hgvs_p": "p.Arg1974Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000528896.7",
"protein_coding": true,
"protein_id": "NP_055495.2",
"strand": false,
"transcript": "NM_014680.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2235,
"aa_ref": "R",
"aa_start": 1974,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7428,
"cdna_start": 6023,
"cds_end": null,
"cds_length": 6708,
"cds_start": 5921,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000528896.7",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5921G>A",
"hgvs_p": "p.Arg1974Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014680.5",
"protein_coding": true,
"protein_id": "ENSP00000436773.2",
"strand": false,
"transcript": "ENST00000528896.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000414744.2",
"gene_hgnc_id": 41140,
"gene_symbol": "SPAG5-AS1",
"hgvs_c": "n.1755C>T",
"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": "ENST00000414744.2",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2234,
"aa_ref": "R",
"aa_start": 1973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7425,
"cdna_start": 6020,
"cds_end": null,
"cds_length": 6705,
"cds_start": 5918,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001321560.2",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5918G>A",
"hgvs_p": "p.Arg1973Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308489.1",
"strand": false,
"transcript": "NM_001321560.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2234,
"aa_ref": "R",
"aa_start": 1973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7449,
"cdna_start": 6038,
"cds_end": null,
"cds_length": 6705,
"cds_start": 5918,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000939120.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5918G>A",
"hgvs_p": "p.Arg1973Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609179.1",
"strand": false,
"transcript": "ENST00000939120.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2234,
"aa_ref": "R",
"aa_start": 1973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7423,
"cdna_start": 6018,
"cds_end": null,
"cds_length": 6705,
"cds_start": 5918,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000939122.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5918G>A",
"hgvs_p": "p.Arg1973Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609181.1",
"strand": false,
"transcript": "ENST00000939122.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2217,
"aa_ref": "R",
"aa_start": 1956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7106,
"cdna_start": 5966,
"cds_end": null,
"cds_length": 6654,
"cds_start": 5867,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000939124.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5867G>A",
"hgvs_p": "p.Arg1956Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609183.1",
"strand": false,
"transcript": "ENST00000939124.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2196,
"aa_ref": "R",
"aa_start": 1935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7329,
"cdna_start": 5920,
"cds_end": null,
"cds_length": 6591,
"cds_start": 5804,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000902448.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5804G>A",
"hgvs_p": "p.Arg1935Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572507.1",
"strand": false,
"transcript": "ENST00000902448.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2184,
"aa_ref": "R",
"aa_start": 1923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7231,
"cdna_start": 5826,
"cds_end": null,
"cds_length": 6555,
"cds_start": 5768,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000939123.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5768G>A",
"hgvs_p": "p.Arg1923Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609182.1",
"strand": false,
"transcript": "ENST00000939123.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2171,
"aa_ref": "R",
"aa_start": 1910,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7255,
"cdna_start": 5844,
"cds_end": null,
"cds_length": 6516,
"cds_start": 5729,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000939121.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5729G>A",
"hgvs_p": "p.Arg1910Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609180.1",
"strand": false,
"transcript": "ENST00000939121.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2169,
"aa_ref": "R",
"aa_start": 1908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6959,
"cdna_start": 5820,
"cds_end": null,
"cds_length": 6510,
"cds_start": 5723,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000955982.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5723G>A",
"hgvs_p": "p.Arg1908Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626041.1",
"strand": false,
"transcript": "ENST00000955982.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2092,
"aa_ref": "R",
"aa_start": 1831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7287,
"cdna_start": 5876,
"cds_end": null,
"cds_length": 6279,
"cds_start": 5492,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001363826.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5492G>A",
"hgvs_p": "p.Arg1831Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350755.1",
"strand": false,
"transcript": "NM_001363826.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 2092,
"aa_ref": "R",
"aa_start": 1831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6852,
"cdna_start": 5883,
"cds_end": null,
"cds_length": 6279,
"cds_start": 5492,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000389003.7",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.5492G>A",
"hgvs_p": "p.Arg1831Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467716.1",
"strand": false,
"transcript": "ENST00000389003.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1900,
"aa_ref": "R",
"aa_start": 1639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7301,
"cdna_start": 5890,
"cds_end": null,
"cds_length": 5703,
"cds_start": 4916,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001363827.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.4916G>A",
"hgvs_p": "p.Arg1639Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350756.1",
"strand": false,
"transcript": "NM_001363827.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1560,
"aa_ref": "R",
"aa_start": 1299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7229,
"cdna_start": 5818,
"cds_end": null,
"cds_length": 4683,
"cds_start": 3896,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001363828.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.3896G>A",
"hgvs_p": "p.Arg1299Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350757.1",
"strand": false,
"transcript": "NM_001363828.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "R",
"aa_start": 1298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7662,
"cdna_start": 6251,
"cds_end": null,
"cds_length": 4680,
"cds_start": 3893,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001363829.1",
"gene_hgnc_id": 28960,
"gene_symbol": "BLTP2",
"hgvs_c": "c.3893G>A",
"hgvs_p": "p.Arg1298Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350758.1",
"strand": false,
"transcript": "NM_001363829.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000424210.1",
"gene_hgnc_id": 41140,
"gene_symbol": "SPAG5-AS1",
"hgvs_c": "n.1165C>T",
"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": "ENST00000424210.1",
"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": 1689,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000584675.1",
"gene_hgnc_id": 41140,
"gene_symbol": "SPAG5-AS1",
"hgvs_c": "n.1306C>T",
"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": "ENST00000584675.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000670419.1",
"gene_hgnc_id": 41140,
"gene_symbol": "SPAG5-AS1",
"hgvs_c": "n.1064C>T",
"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": "ENST00000670419.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1365,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_040012.1",
"gene_hgnc_id": 41140,
"gene_symbol": "SPAG5-AS1",
"hgvs_c": "n.977C>T",
"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": "NR_040012.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 477,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
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]
}