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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: 18-46477770-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46477770&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LOXHD1",
"hgnc_id": 26521,
"hgvs_c": "c.6524T>C",
"hgvs_p": "p.Phe2175Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001384474.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 104,
"alphamissense_prediction": null,
"alphamissense_score": 0.1303,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 77,Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03964048624038696,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2273,
"aa_ref": "F",
"aa_start": 2175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7208,
"cdna_start": 6711,
"cds_end": null,
"cds_length": 6822,
"cds_start": 6524,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001384474.1",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.6524T>C",
"hgvs_p": "p.Phe2175Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642948.1",
"protein_coding": true,
"protein_id": "NP_001371403.1",
"strand": false,
"transcript": "NM_001384474.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2273,
"aa_ref": "F",
"aa_start": 2175,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7208,
"cdna_start": 6711,
"cds_end": null,
"cds_length": 6822,
"cds_start": 6524,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000642948.1",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.6524T>C",
"hgvs_p": "p.Phe2175Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001384474.1",
"protein_coding": true,
"protein_id": "ENSP00000496347.1",
"strand": false,
"transcript": "ENST00000642948.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "F",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 3605,
"cds_end": null,
"cds_length": 3345,
"cds_start": 3191,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000300591.11",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.3191T>C",
"hgvs_p": "p.Phe1064Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000300591.6",
"strand": false,
"transcript": "ENST00000300591.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "F",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 3254,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2903,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000579038.6",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.2903T>C",
"hgvs_p": "p.Phe968Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463285.1",
"strand": false,
"transcript": "ENST00000579038.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 512,
"aa_ref": "F",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000398686.8",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Phe414Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381676.4",
"strand": false,
"transcript": "ENST00000398686.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2211,
"aa_ref": "F",
"aa_start": 2113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7022,
"cdna_start": 6525,
"cds_end": null,
"cds_length": 6636,
"cds_start": 6338,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_144612.7",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.6338T>C",
"hgvs_p": "p.Phe2113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_653213.6",
"strand": false,
"transcript": "NM_144612.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2211,
"aa_ref": "F",
"aa_start": 2113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6848,
"cdna_start": 6338,
"cds_end": null,
"cds_length": 6636,
"cds_start": 6338,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000536736.5",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.6338T>C",
"hgvs_p": "p.Phe2113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444586.1",
"strand": false,
"transcript": "ENST00000536736.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2067,
"aa_ref": "F",
"aa_start": 1969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6226,
"cdna_start": 5906,
"cds_end": null,
"cds_length": 6204,
"cds_start": 5906,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000441551.6",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.5906T>C",
"hgvs_p": "p.Phe1969Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387621.2",
"strand": false,
"transcript": "ENST00000441551.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "F",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 3605,
"cds_end": null,
"cds_length": 3345,
"cds_start": 3191,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001145472.3",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.3191T>C",
"hgvs_p": "p.Phe1064Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138944.1",
"strand": false,
"transcript": "NM_001145472.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1100,
"aa_ref": "F",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 3245,
"cds_end": null,
"cds_length": 3303,
"cds_start": 3005,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000582408.6",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.3005T>C",
"hgvs_p": "p.Phe1002Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461964.1",
"strand": false,
"transcript": "ENST00000582408.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "F",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 3254,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2903,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001308013.2",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.2903T>C",
"hgvs_p": "p.Phe968Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001294942.1",
"strand": false,
"transcript": "NM_001308013.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 512,
"aa_ref": "F",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001145473.3",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Phe414Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138945.1",
"strand": false,
"transcript": "NM_001145473.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 457,
"aa_ref": "F",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001173129.2",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Phe414Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166600.1",
"strand": false,
"transcript": "NM_001173129.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 457,
"aa_ref": "F",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1831,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000398705.7",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.1241T>C",
"hgvs_p": "p.Phe414Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381692.2",
"strand": false,
"transcript": "ENST00000398705.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1925,
"aa_ref": "F",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6076,
"cdna_start": 5579,
"cds_end": null,
"cds_length": 5778,
"cds_start": 5480,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_047437289.1",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.5480T>C",
"hgvs_p": "p.Phe1827Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293245.1",
"strand": false,
"transcript": "XM_047437289.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1660,
"aa_ref": "F",
"aa_start": 1562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5251,
"cdna_start": 4754,
"cds_end": null,
"cds_length": 4983,
"cds_start": 4685,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_011525804.3",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.4685T>C",
"hgvs_p": "p.Phe1562Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524106.1",
"strand": false,
"transcript": "XM_011525804.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "F",
"aa_start": 1108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 3451,
"cds_end": null,
"cds_length": 3621,
"cds_start": 3323,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_006722388.4",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.3323T>C",
"hgvs_p": "p.Phe1108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722451.1",
"strand": false,
"transcript": "XM_006722388.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1161,
"aa_ref": "F",
"aa_start": 1063,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 3221,
"cds_end": null,
"cds_length": 3486,
"cds_start": 3188,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_024451085.2",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.3188T>C",
"hgvs_p": "p.Phe1063Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306853.1",
"strand": false,
"transcript": "XM_024451085.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1144,
"aa_ref": "F",
"aa_start": 1046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": 3265,
"cds_end": null,
"cds_length": 3435,
"cds_start": 3137,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_006722391.4",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.3137T>C",
"hgvs_p": "p.Phe1046Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722454.1",
"strand": false,
"transcript": "XM_006722391.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "F",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 3254,
"cds_end": null,
"cds_length": 3201,
"cds_start": 2903,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_024451086.2",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.2903T>C",
"hgvs_p": "p.Phe968Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306854.1",
"strand": false,
"transcript": "XM_024451086.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "F",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3587,
"cdna_start": 3090,
"cds_end": null,
"cds_length": 3201,
"cds_start": 2903,
"consequences": [
"missense_variant"
],
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}