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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: 17-16382552-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=16382552&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "UBB",
"hgnc_id": 12463,
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_018955.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000265401",
"hgnc_id": 58390,
"hgvs_c": "n.102+16T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -10,
"transcript": "ENST00000583934.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -13,
"allele_count_reference_population": 2297,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6800000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": 745,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_018955.4",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302182.8",
"protein_coding": true,
"protein_id": "NP_061828.1",
"strand": true,
"transcript": "NM_018955.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": 745,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000302182.8",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018955.4",
"protein_coding": true,
"protein_id": "ENSP00000304697.3",
"strand": true,
"transcript": "ENST00000302182.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1097,
"cdna_start": 909,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001281716.2",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268645.1",
"strand": true,
"transcript": "NM_001281716.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": 866,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001281717.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268646.1",
"strand": true,
"transcript": "NM_001281717.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1019,
"cdna_start": 826,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001281718.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268647.1",
"strand": true,
"transcript": "NM_001281718.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1017,
"cdna_start": 824,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001281719.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268648.1",
"strand": true,
"transcript": "NM_001281719.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 864,
"cdna_start": 676,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001281720.2",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268649.1",
"strand": true,
"transcript": "NM_001281720.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": 826,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000395837.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379178.1",
"strand": true,
"transcript": "ENST00000395837.1",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": 824,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000395839.5",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379180.1",
"strand": true,
"transcript": "ENST00000395839.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1056,
"cdna_start": 866,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000614404.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478771.1",
"strand": true,
"transcript": "ENST00000614404.1",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 996,
"cdna_start": 805,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879806.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549865.1",
"strand": true,
"transcript": "ENST00000879806.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 869,
"cdna_start": 676,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879807.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549866.1",
"strand": true,
"transcript": "ENST00000879807.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 838,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879808.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549867.1",
"strand": true,
"transcript": "ENST00000879808.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1009,
"cdna_start": 820,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879809.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549868.1",
"strand": true,
"transcript": "ENST00000879809.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1103,
"cdna_start": 911,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879810.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549869.1",
"strand": true,
"transcript": "ENST00000879810.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 870,
"cdna_start": 679,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879811.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549870.1",
"strand": true,
"transcript": "ENST00000879811.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 887,
"cdna_start": 700,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879812.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549871.1",
"strand": true,
"transcript": "ENST00000879812.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915770.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585829.1",
"strand": true,
"transcript": "ENST00000915770.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 229,
"aa_ref": "K",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1148,
"cdna_start": 955,
"cds_end": null,
"cds_length": 690,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000915771.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Lys215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585830.1",
"strand": true,
"transcript": "ENST00000915771.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 153,
"aa_ref": "K",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 704,
"cdna_start": 517,
"cds_end": null,
"cds_length": 462,
"cds_start": 417,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000535788.1",
"gene_hgnc_id": 12463,
"gene_symbol": "UBB",
"hgvs_c": "c.417A>G",
"hgvs_p": "p.Lys139Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437475.1",
"strand": true,
"transcript": "ENST00000535788.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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{
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{
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}
]
}