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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: 2-61071790-CT-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=61071790&ref=CT&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SANBR",
"hgnc_id": 29387,
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001129993.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": "I",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 638,
"cds_end": null,
"cds_length": 2157,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001129993.3",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402291.6",
"protein_coding": true,
"protein_id": "NP_001123465.1",
"strand": true,
"transcript": "NM_001129993.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 638,
"cds_end": null,
"cds_length": 2157,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402291.6",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001129993.3",
"protein_coding": true,
"protein_id": "ENSP00000385579.1",
"strand": true,
"transcript": "ENST00000402291.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 707,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 712,
"cds_end": null,
"cds_length": 2124,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000295031.9",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295031.5",
"strand": true,
"transcript": "ENST00000295031.9",
"transcript_support_level": 1
},
{
"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": 4472,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000453186.5",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "n.335_336delCTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000413200.1",
"strand": true,
"transcript": "ENST00000453186.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4671,
"cdna_start": 731,
"cds_end": null,
"cds_length": 2157,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330436.2",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317365.1",
"strand": true,
"transcript": "NM_001330436.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 360,
"cds_end": null,
"cds_length": 2157,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000453873.5",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416795.1",
"strand": true,
"transcript": "ENST00000453873.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4508,
"cdna_start": 565,
"cds_end": null,
"cds_length": 2157,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926248.1",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596307.1",
"strand": true,
"transcript": "ENST00000926248.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4592,
"cdna_start": 656,
"cds_end": null,
"cds_length": 2157,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962436.1",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632495.1",
"strand": true,
"transcript": "ENST00000962436.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 707,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 638,
"cds_end": null,
"cds_length": 2124,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330433.2",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317362.1",
"strand": true,
"transcript": "NM_001330433.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 707,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 598,
"cds_end": null,
"cds_length": 2124,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330435.2",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317364.1",
"strand": true,
"transcript": "NM_001330435.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 707,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 731,
"cds_end": null,
"cds_length": 2124,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032506.4",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115895.2",
"strand": true,
"transcript": "NM_032506.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 707,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 360,
"cds_end": null,
"cds_length": 2124,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356719.6",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349154.3",
"strand": true,
"transcript": "ENST00000356719.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 703,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4458,
"cdna_start": 563,
"cds_end": null,
"cds_length": 2112,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926251.1",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596310.1",
"strand": true,
"transcript": "ENST00000926251.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 667,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4425,
"cdna_start": 638,
"cds_end": null,
"cds_length": 2004,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330434.2",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317363.1",
"strand": true,
"transcript": "NM_001330434.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 667,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4383,
"cdna_start": 596,
"cds_end": null,
"cds_length": 2004,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926249.1",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596308.1",
"strand": true,
"transcript": "ENST00000926249.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 664,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4379,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1995,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962438.1",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632497.1",
"strand": true,
"transcript": "ENST00000962438.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 663,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4378,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1992,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962437.1",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632496.1",
"strand": true,
"transcript": "ENST00000962437.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 607,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1824,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895613.1",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565672.1",
"strand": true,
"transcript": "ENST00000895613.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 605,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1818,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926250.1",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.335_336delCTinsTC",
"hgvs_p": "p.Thr112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596309.1",
"strand": true,
"transcript": "ENST00000926250.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 572,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4484,
"cdna_start": null,
"cds_end": null,
"cds_length": 1719,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001330432.2",
"gene_hgnc_id": 29387,
"gene_symbol": "SANBR",
"hgvs_c": "c.-10_-9delCTinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317361.1",
"strand": true,
"transcript": "NM_001330432.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 572,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
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]
}