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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: 5-178149821-TGC-GGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178149821&ref=TGC&alt=GGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NHP2",
"hgnc_id": 14377,
"hgvs_c": "c.480_482delGCAinsACC",
"hgvs_p": "p.Gln161Pro",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001396110.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "RMND5B",
"hgnc_id": 26181,
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_022762.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"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": "T",
"aa_end": null,
"aa_length": 153,
"aa_ref": "A",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 780,
"cdna_start": 422,
"cds_end": null,
"cds_length": 462,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017838.4",
"gene_hgnc_id": 14377,
"gene_symbol": "NHP2",
"hgvs_c": "c.352_354delGCAinsACC",
"hgvs_p": "p.Ala118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000274606.8",
"protein_coding": true,
"protein_id": "NP_060308.1",
"strand": false,
"transcript": "NM_017838.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 153,
"aa_ref": "A",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 780,
"cdna_start": 422,
"cds_end": null,
"cds_length": 462,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000274606.8",
"gene_hgnc_id": 14377,
"gene_symbol": "NHP2",
"hgvs_c": "c.352_354delGCAinsACC",
"hgvs_p": "p.Ala118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017838.4",
"protein_coding": true,
"protein_id": "ENSP00000274606.4",
"strand": false,
"transcript": "ENST00000274606.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_022762.5",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313386.9",
"protein_coding": true,
"protein_id": "NP_073599.2",
"strand": true,
"transcript": "NM_022762.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000313386.9",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022762.5",
"protein_coding": true,
"protein_id": "ENSP00000320623.4",
"strand": true,
"transcript": "ENST00000313386.9",
"transcript_support_level": 1
},
{
"aa_alt": "PP",
"aa_end": null,
"aa_length": 168,
"aa_ref": "PQ",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 908,
"cdna_start": 550,
"cds_end": null,
"cds_length": 507,
"cds_start": 480,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001396110.1",
"gene_hgnc_id": 14377,
"gene_symbol": "NHP2",
"hgvs_c": "c.480_482delGCAinsACC",
"hgvs_p": "p.Gln161Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001383039.1",
"strand": false,
"transcript": "NM_001396110.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 159,
"aa_ref": "A",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 516,
"cds_end": null,
"cds_length": 480,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940843.1",
"gene_hgnc_id": 14377,
"gene_symbol": "NHP2",
"hgvs_c": "c.370_372delGCAinsACC",
"hgvs_p": "p.Ala124Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610902.1",
"strand": false,
"transcript": "ENST00000940843.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 130,
"aa_ref": "A",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 710,
"cdna_start": 352,
"cds_end": null,
"cds_length": 393,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890268.1",
"gene_hgnc_id": 14377,
"gene_symbol": "NHP2",
"hgvs_c": "c.283_285delGCAinsACC",
"hgvs_p": "p.Ala95Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560327.1",
"strand": false,
"transcript": "ENST00000890268.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 114,
"aa_ref": "A",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 697,
"cdna_start": 335,
"cds_end": null,
"cds_length": 345,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940844.1",
"gene_hgnc_id": 14377,
"gene_symbol": "NHP2",
"hgvs_c": "c.235_237delGCAinsACC",
"hgvs_p": "p.Ala79Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610903.1",
"strand": false,
"transcript": "ENST00000940844.1",
"transcript_support_level": null
},
{
"aa_alt": "PP",
"aa_end": null,
"aa_length": 90,
"aa_ref": "PQ",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 674,
"cdna_start": 316,
"cds_end": null,
"cds_length": 273,
"cds_start": 246,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001034833.2",
"gene_hgnc_id": 14377,
"gene_symbol": "NHP2",
"hgvs_c": "c.246_248delGCAinsACC",
"hgvs_p": "p.Gln83Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001030005.1",
"strand": false,
"transcript": "NM_001034833.2",
"transcript_support_level": null
},
{
"aa_alt": "PP",
"aa_end": null,
"aa_length": 90,
"aa_ref": "PQ",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 637,
"cdna_start": 279,
"cds_end": null,
"cds_length": 273,
"cds_start": 246,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000314397.9",
"gene_hgnc_id": 14377,
"gene_symbol": "NHP2",
"hgvs_c": "c.246_248delGCAinsACC",
"hgvs_p": "p.Gln83Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366276.2",
"strand": false,
"transcript": "ENST00000314397.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4170,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000940697.1",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610756.1",
"strand": true,
"transcript": "ENST00000940697.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001288794.2",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275723.1",
"strand": true,
"transcript": "NM_001288794.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000515098.5",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420875.1",
"strand": true,
"transcript": "ENST00000515098.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5791,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890008.1",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560067.1",
"strand": true,
"transcript": "ENST00000890008.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940695.1",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610754.1",
"strand": true,
"transcript": "ENST00000940695.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 380,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3900,
"cdna_start": null,
"cds_end": null,
"cds_length": 1143,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001288795.2",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275724.1",
"strand": true,
"transcript": "NM_001288795.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3771,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005265969.5",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266026.1",
"strand": true,
"transcript": "XM_005265969.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047417525.1",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273481.1",
"strand": true,
"transcript": "XM_047417525.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3873,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047417526.1",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273482.1",
"strand": true,
"transcript": "XM_047417526.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 333,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": null,
"cds_end": null,
"cds_length": 1002,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_005265972.4",
"gene_hgnc_id": 26181,
"gene_symbol": "RMND5B",
"hgvs_c": "c.*1789_*1791delTGCinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266029.1",
"strand": true,
"transcript": "XM_005265972.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 333,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": null,
"cds_end": null,
"cds_length": 1002,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
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