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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: 12-108523548-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=108523548&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SART3",
"hgnc_id": 16860,
"hgvs_c": "c.2855C>T",
"hgvs_p": "p.Pro952Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001410983.1",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FICD",
"hgnc_id": 18416,
"hgvs_c": "c.152-2041G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000549641.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.0906,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1662244200706482,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 963,
"aa_ref": "P",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4154,
"cdna_start": 2820,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2801,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_014706.4",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2801C>T",
"hgvs_p": "p.Pro934Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000546815.6",
"protein_coding": true,
"protein_id": "NP_055521.1",
"strand": false,
"transcript": "NM_014706.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 963,
"aa_ref": "P",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4154,
"cdna_start": 2820,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2801,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000546815.6",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2801C>T",
"hgvs_p": "p.Pro934Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014706.4",
"protein_coding": true,
"protein_id": "ENSP00000449386.2",
"strand": false,
"transcript": "ENST00000546815.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 981,
"aa_ref": "P",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3704,
"cdna_start": 2860,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000228284.8",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2855C>T",
"hgvs_p": "p.Pro952Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000228284.4",
"strand": false,
"transcript": "ENST00000228284.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 927,
"aa_ref": "P",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 2698,
"cds_end": null,
"cds_length": 2784,
"cds_start": 2693,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000431469.6",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2693C>T",
"hgvs_p": "p.Pro898Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414453.2",
"strand": false,
"transcript": "ENST00000431469.6",
"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": 3637,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000546728.5",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "n.*1695C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449743.1",
"strand": false,
"transcript": "ENST00000546728.5",
"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": 3637,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000546728.5",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "n.*1695C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449743.1",
"strand": false,
"transcript": "ENST00000546728.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 981,
"aa_ref": "P",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4208,
"cdna_start": 2874,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001410983.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2855C>T",
"hgvs_p": "p.Pro952Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397912.1",
"strand": false,
"transcript": "NM_001410983.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 971,
"aa_ref": "P",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3809,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2825,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000901890.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2825C>T",
"hgvs_p": "p.Pro942Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571949.1",
"strand": false,
"transcript": "ENST00000901890.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 968,
"aa_ref": "P",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4167,
"cdna_start": 2835,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2816,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000901889.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2816C>T",
"hgvs_p": "p.Pro939Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571948.1",
"strand": false,
"transcript": "ENST00000901889.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 962,
"aa_ref": "P",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2798,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929722.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2798C>T",
"hgvs_p": "p.Pro933Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599781.1",
"strand": false,
"transcript": "ENST00000929722.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 960,
"aa_ref": "P",
"aa_start": 931,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3676,
"cdna_start": 2813,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2792,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000901891.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2792C>T",
"hgvs_p": "p.Pro931Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571950.1",
"strand": false,
"transcript": "ENST00000901891.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 950,
"aa_ref": "P",
"aa_start": 921,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3636,
"cdna_start": 2773,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2762,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000901893.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2762C>T",
"hgvs_p": "p.Pro921Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571952.1",
"strand": false,
"transcript": "ENST00000901893.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 911,
"aa_ref": "P",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3999,
"cdna_start": 2666,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000901888.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2645C>T",
"hgvs_p": "p.Pro882Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571947.1",
"strand": false,
"transcript": "ENST00000901888.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 904,
"aa_ref": "P",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": 2643,
"cds_end": null,
"cds_length": 2715,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000963654.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2624C>T",
"hgvs_p": "p.Pro875Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633713.1",
"strand": false,
"transcript": "ENST00000963654.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 877,
"aa_ref": "P",
"aa_start": 848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": 2562,
"cds_end": null,
"cds_length": 2634,
"cds_start": 2543,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000929723.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2543C>T",
"hgvs_p": "p.Pro848Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599782.1",
"strand": false,
"transcript": "ENST00000929723.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 875,
"aa_ref": "P",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3418,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2537,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000929724.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2537C>T",
"hgvs_p": "p.Pro846Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599783.1",
"strand": false,
"transcript": "ENST00000929724.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 823,
"aa_ref": "P",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 2390,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2381,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000929726.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2381C>T",
"hgvs_p": "p.Pro794Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599785.1",
"strand": false,
"transcript": "ENST00000929726.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 787,
"aa_ref": "P",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 2364,
"cds_start": 2273,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000929725.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.2273C>T",
"hgvs_p": "p.Pro758Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599784.1",
"strand": false,
"transcript": "ENST00000929725.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 624,
"aa_ref": "P",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1784,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901892.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.1784C>T",
"hgvs_p": "p.Pro595Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571951.1",
"strand": false,
"transcript": "ENST00000901892.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 675,
"aa_ref": "P",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1937,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047429916.1",
"gene_hgnc_id": 16860,
"gene_symbol": "SART3",
"hgvs_c": "c.1937C>T",
"hgvs_p": "p.Pro646Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285872.1",
"strand": false,
"transcript": "XM_047429916.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 55,
"aa_ref": null,
"aa_start": null,
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]
}