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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: 12-108523553-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=108523553&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SART3",
"hgnc_id": 16860,
"hgvs_c": "c.2850C>G",
"hgvs_p": "p.Asn950Lys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001410983.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FICD",
"hgnc_id": 18416,
"hgvs_c": "c.152-2036G>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000549641.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4773,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21929427981376648,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 963,
"aa_ref": "N",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4154,
"cdna_start": 2815,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2796,
"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.2796C>G",
"hgvs_p": "p.Asn932Lys",
"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": "K",
"aa_end": null,
"aa_length": 963,
"aa_ref": "N",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4154,
"cdna_start": 2815,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2796,
"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.2796C>G",
"hgvs_p": "p.Asn932Lys",
"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": "K",
"aa_end": null,
"aa_length": 981,
"aa_ref": "N",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3704,
"cdna_start": 2855,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2850,
"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.2850C>G",
"hgvs_p": "p.Asn950Lys",
"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": "K",
"aa_end": null,
"aa_length": 927,
"aa_ref": "N",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 2693,
"cds_end": null,
"cds_length": 2784,
"cds_start": 2688,
"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.2688C>G",
"hgvs_p": "p.Asn896Lys",
"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.*1690C>G",
"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.*1690C>G",
"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": "K",
"aa_end": null,
"aa_length": 981,
"aa_ref": "N",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4208,
"cdna_start": 2869,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2850,
"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.2850C>G",
"hgvs_p": "p.Asn950Lys",
"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": "K",
"aa_end": null,
"aa_length": 971,
"aa_ref": "N",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3809,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2820,
"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.2820C>G",
"hgvs_p": "p.Asn940Lys",
"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": "K",
"aa_end": null,
"aa_length": 968,
"aa_ref": "N",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4167,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2811,
"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.2811C>G",
"hgvs_p": "p.Asn937Lys",
"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": "K",
"aa_end": null,
"aa_length": 962,
"aa_ref": "N",
"aa_start": 931,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": 2814,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2793,
"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.2793C>G",
"hgvs_p": "p.Asn931Lys",
"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": "K",
"aa_end": null,
"aa_length": 960,
"aa_ref": "N",
"aa_start": 929,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3676,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2787,
"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.2787C>G",
"hgvs_p": "p.Asn929Lys",
"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": "K",
"aa_end": null,
"aa_length": 950,
"aa_ref": "N",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3636,
"cdna_start": 2768,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2757,
"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.2757C>G",
"hgvs_p": "p.Asn919Lys",
"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": "K",
"aa_end": null,
"aa_length": 911,
"aa_ref": "N",
"aa_start": 880,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3999,
"cdna_start": 2661,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2640,
"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.2640C>G",
"hgvs_p": "p.Asn880Lys",
"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": "K",
"aa_end": null,
"aa_length": 904,
"aa_ref": "N",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": 2638,
"cds_end": null,
"cds_length": 2715,
"cds_start": 2619,
"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.2619C>G",
"hgvs_p": "p.Asn873Lys",
"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": "K",
"aa_end": null,
"aa_length": 877,
"aa_ref": "N",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 2634,
"cds_start": 2538,
"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.2538C>G",
"hgvs_p": "p.Asn846Lys",
"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": "K",
"aa_end": null,
"aa_length": 875,
"aa_ref": "N",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3418,
"cdna_start": 2550,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2532,
"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.2532C>G",
"hgvs_p": "p.Asn844Lys",
"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": "K",
"aa_end": null,
"aa_length": 823,
"aa_ref": "N",
"aa_start": 792,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 2385,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2376,
"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.2376C>G",
"hgvs_p": "p.Asn792Lys",
"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": "K",
"aa_end": null,
"aa_length": 787,
"aa_ref": "N",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": 2284,
"cds_end": null,
"cds_length": 2364,
"cds_start": 2268,
"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.2268C>G",
"hgvs_p": "p.Asn756Lys",
"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": "K",
"aa_end": null,
"aa_length": 624,
"aa_ref": "N",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1779,
"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.1779C>G",
"hgvs_p": "p.Asn593Lys",
"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": "K",
"aa_end": null,
"aa_length": 675,
"aa_ref": "N",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 1965,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1932,
"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.1932C>G",
"hgvs_p": "p.Asn644Lys",
"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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}