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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: 1-181049099-CAT-AGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=181049099&ref=CAT&alt=AGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MR1",
"hgnc_id": 4975,
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001531.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"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": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7724,
"cdna_start": 140,
"cds_end": null,
"cds_length": 1026,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385161.1",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367580.6",
"protein_coding": true,
"protein_id": "NP_001372090.1",
"strand": true,
"transcript": "NM_001385161.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7724,
"cdna_start": 140,
"cds_end": null,
"cds_length": 1026,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367580.6",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001385161.1",
"protein_coding": true,
"protein_id": "ENSP00000356552.5",
"strand": true,
"transcript": "ENST00000367580.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 296,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1154,
"cdna_start": 120,
"cds_end": null,
"cds_length": 891,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367579.7",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356551.3",
"strand": true,
"transcript": "ENST00000367579.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": 120,
"cds_end": null,
"cds_length": 750,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000282990.10",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000282990.6",
"strand": true,
"transcript": "ENST00000282990.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7898,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1026,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001531.3",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001522.1",
"strand": true,
"transcript": "NM_001531.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 341,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7911,
"cdna_start": 327,
"cds_end": null,
"cds_length": 1026,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614012.5",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477563.1",
"strand": true,
"transcript": "ENST00000614012.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 312,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7637,
"cdna_start": 140,
"cds_end": null,
"cds_length": 939,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385162.1",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372091.1",
"strand": true,
"transcript": "NM_001385162.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 312,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": 136,
"cds_end": null,
"cds_length": 939,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617803.5",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478976.2",
"strand": true,
"transcript": "ENST00000617803.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 296,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7763,
"cdna_start": 314,
"cds_end": null,
"cds_length": 891,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001194999.2",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181928.1",
"strand": true,
"transcript": "NM_001194999.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7622,
"cdna_start": 314,
"cds_end": null,
"cds_length": 750,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001195000.2",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181929.1",
"strand": true,
"transcript": "NM_001195000.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 140,
"cds_end": null,
"cds_length": 750,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385164.1",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372093.1",
"strand": true,
"transcript": "NM_001385164.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 220,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1019,
"cdna_start": 140,
"cds_end": null,
"cds_length": 663,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385163.1",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372092.1",
"strand": true,
"transcript": "NM_001385163.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 214,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7517,
"cdna_start": 314,
"cds_end": null,
"cds_length": 645,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001195035.2",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181964.1",
"strand": true,
"transcript": "NM_001195035.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 214,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1046,
"cdna_start": 192,
"cds_end": null,
"cds_length": 645,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434571.7",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388504.2",
"strand": true,
"transcript": "ENST00000434571.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 312,
"aa_ref": "H",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7811,
"cdna_start": 314,
"cds_end": null,
"cds_length": 939,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418899.1",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.115_117delCATinsAGA",
"hgvs_p": "p.His39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274855.1",
"strand": true,
"transcript": "XM_047418899.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 178,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7738,
"cdna_start": null,
"cds_end": null,
"cds_length": 537,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001310213.2",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.-99_-97delCATinsAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001297142.1",
"strand": true,
"transcript": "NM_001310213.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 113,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 464,
"cdna_start": null,
"cds_end": null,
"cds_length": 343,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684662.1",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.68-912_68-910delCATinsAGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507447.1",
"strand": true,
"transcript": "ENST00000684662.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 70,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": null,
"cds_end": null,
"cds_length": 213,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969608.1",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.68-4474_68-4472delCATinsAGA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639667.1",
"strand": true,
"transcript": "ENST00000969608.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 35,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1365,
"cdna_start": null,
"cds_end": null,
"cds_length": 108,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683652.1",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.68-6126_68-6124delCATinsAGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507049.1",
"strand": true,
"transcript": "ENST00000683652.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 254,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7637,
"cdna_start": null,
"cds_end": null,
"cds_length": 765,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011509463.3",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "c.68-912_68-910delCATinsAGA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507765.1",
"strand": true,
"transcript": "XM_011509463.3",
"transcript_support_level": null
},
{
"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": 1577,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000367578.1",
"gene_hgnc_id": 4975,
"gene_symbol": "MR1",
"hgvs_c": "n.101_103delCATinsAGA",
"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": "ENST00000367578.1",
"transcript_support_level": 2
},
{
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