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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: 19-34377737-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=34377737&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "GPI",
"hgnc_id": 4458,
"hgvs_c": "c.606A>T",
"hgvs_p": "p.Gly202Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_001289789.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7599999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 558,
"aa_ref": "G",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": 560,
"cds_end": null,
"cds_length": 1677,
"cds_start": 489,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000175.5",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.489A>T",
"hgvs_p": "p.Gly163Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356487.11",
"protein_coding": true,
"protein_id": "NP_000166.2",
"strand": true,
"transcript": "NM_000175.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 558,
"aa_ref": "G",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": 560,
"cds_end": null,
"cds_length": 1677,
"cds_start": 489,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000356487.11",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.489A>T",
"hgvs_p": "p.Gly163Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000175.5",
"protein_coding": true,
"protein_id": "ENSP00000348877.3",
"strand": true,
"transcript": "ENST00000356487.11",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 597,
"aa_ref": "G",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 776,
"cds_end": null,
"cds_length": 1794,
"cds_start": 606,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001289789.1",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.606A>T",
"hgvs_p": "p.Gly202Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276718.1",
"strand": true,
"transcript": "NM_001289789.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 597,
"aa_ref": "G",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4450,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1794,
"cds_start": 606,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001440422.1",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.606A>T",
"hgvs_p": "p.Gly202Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427351.1",
"strand": true,
"transcript": "NM_001440422.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 597,
"aa_ref": "G",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 776,
"cds_end": null,
"cds_length": 1794,
"cds_start": 606,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000415930.8",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.606A>T",
"hgvs_p": "p.Gly202Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405573.3",
"strand": true,
"transcript": "ENST00000415930.8",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 572,
"aa_ref": "G",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 602,
"cds_end": null,
"cds_length": 1719,
"cds_start": 531,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899688.1",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.531A>T",
"hgvs_p": "p.Gly177Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569747.1",
"strand": true,
"transcript": "ENST00000899688.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 569,
"aa_ref": "G",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1710,
"cds_start": 522,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001184722.1",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.522A>T",
"hgvs_p": "p.Gly174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171651.1",
"strand": true,
"transcript": "NM_001184722.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 569,
"aa_ref": "G",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1710,
"cds_start": 522,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000588991.7",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.522A>T",
"hgvs_p": "p.Gly174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465858.3",
"strand": true,
"transcript": "ENST00000588991.7",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 558,
"aa_ref": "G",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4160,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1677,
"cds_start": 489,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001329909.1",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.489A>T",
"hgvs_p": "p.Gly163Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316838.1",
"strand": true,
"transcript": "NM_001329909.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 558,
"aa_ref": "G",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4135,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1677,
"cds_start": 489,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001329910.1",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.489A>T",
"hgvs_p": "p.Gly163Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316839.1",
"strand": true,
"transcript": "NM_001329910.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 558,
"aa_ref": "G",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 526,
"cds_end": null,
"cds_length": 1677,
"cds_start": 489,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000921283.1",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.489A>T",
"hgvs_p": "p.Gly163Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591342.1",
"strand": true,
"transcript": "ENST00000921283.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4098,
"cdna_start": 560,
"cds_end": null,
"cds_length": 1650,
"cds_start": 489,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001329911.2",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.489A>T",
"hgvs_p": "p.Gly163Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316840.1",
"strand": true,
"transcript": "NM_001329911.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 535,
"aa_ref": "G",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 491,
"cds_end": null,
"cds_length": 1608,
"cds_start": 420,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000899687.1",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.420A>T",
"hgvs_p": "p.Gly140Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569746.1",
"strand": true,
"transcript": "ENST00000899687.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 530,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4041,
"cdna_start": 476,
"cds_end": null,
"cds_length": 1593,
"cds_start": 405,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001289790.3",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.405A>T",
"hgvs_p": "p.Gly135Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276719.1",
"strand": true,
"transcript": "NM_001289790.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 377,
"cds_end": null,
"cds_length": 1341,
"cds_start": 375,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000586425.2",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.375A>T",
"hgvs_p": "p.Gly125Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467670.3",
"strand": true,
"transcript": "ENST00000586425.2",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 165,
"aa_ref": "G",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": 476,
"cds_end": null,
"cds_length": 500,
"cds_start": 405,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000589640.5",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.405A>T",
"hgvs_p": "p.Gly135Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467590.2",
"strand": true,
"transcript": "ENST00000589640.5",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": 440,
"cds_end": null,
"cds_length": 488,
"cds_start": 369,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000591204.5",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.369A>T",
"hgvs_p": "p.Gly123Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466851.2",
"strand": true,
"transcript": "ENST00000591204.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 169,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": 511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589399.6",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "c.403-1197A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468201.2",
"strand": true,
"transcript": "ENST00000589399.6",
"transcript_support_level": 5
},
{
"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": 678,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000592144.5",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "n.*563A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464798.2",
"strand": true,
"transcript": "ENST00000592144.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000643067.1",
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"hgvs_c": "n.999A>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": "ENST00000643067.1",
"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": 2020,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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},
{
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"consequences": [
"3_prime_UTR_variant"
],
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"feature": "ENST00000592144.5",
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"protein_id": "ENSP00000464798.2",
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},
{
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"consequences": [
"downstream_gene_variant"
],
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"feature": "ENST00000590375.5",
"gene_hgnc_id": 4458,
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"protein_coding": true,
"protein_id": "ENSP00000467221.1",
"strand": true,
"transcript": "ENST00000590375.5",
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}
],
"custom_annotations": null,
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"dbscsnv_ada_score": null,
"dbsnp": "rs1801015",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.0000043386262,
"gene_hgnc_id": 4458,
"gene_symbol": "GPI",
"gnomad_exomes_ac": 3,
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"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.807,
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"ref": "A",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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}
]
}