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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: 3-53292125-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53292125&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DCP1A",
"hgnc_id": 18714,
"hgvs_c": "c.1327G>C",
"hgvs_p": "p.Ala443Pro",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_018403.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000302984",
"hgnc_id": null,
"hgvs_c": "n.279-774C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000790869.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC107986087",
"hgnc_id": null,
"hgvs_c": "n.208-774C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "XR_001740702.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0932,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3270174264907837,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 582,
"aa_ref": "A",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5926,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_018403.7",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1327G>C",
"hgvs_p": "p.Ala443Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000610213.6",
"protein_coding": true,
"protein_id": "NP_060873.4",
"strand": false,
"transcript": "NM_018403.7",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 582,
"aa_ref": "A",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5926,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000610213.6",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1327G>C",
"hgvs_p": "p.Ala443Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018403.7",
"protein_coding": true,
"protein_id": "ENSP00000476386.1",
"strand": false,
"transcript": "ENST00000610213.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1369,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863998.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1369G>C",
"hgvs_p": "p.Ala457Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534057.1",
"strand": false,
"transcript": "ENST00000863998.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 581,
"aa_ref": "A",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918281.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1324G>C",
"hgvs_p": "p.Ala442Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588340.1",
"strand": false,
"transcript": "ENST00000918281.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 580,
"aa_ref": "A",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863996.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1321G>C",
"hgvs_p": "p.Ala441Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534055.1",
"strand": false,
"transcript": "ENST00000863996.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 579,
"aa_ref": "A",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956912.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1327G>C",
"hgvs_p": "p.Ala443Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626971.1",
"strand": false,
"transcript": "ENST00000956912.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 567,
"aa_ref": "A",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863995.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1327G>C",
"hgvs_p": "p.Ala443Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534054.1",
"strand": false,
"transcript": "ENST00000863995.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 560,
"aa_ref": "A",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863999.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1327G>C",
"hgvs_p": "p.Ala443Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534058.1",
"strand": false,
"transcript": "ENST00000863999.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5812,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001290204.2",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277133.1",
"strand": false,
"transcript": "NM_001290204.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000294241.10",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476046.2",
"strand": false,
"transcript": "ENST00000294241.10",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 531,
"aa_ref": "A",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864000.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1174G>C",
"hgvs_p": "p.Ala392Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534059.1",
"strand": false,
"transcript": "ENST00000864000.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918279.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588338.1",
"strand": false,
"transcript": "ENST00000918279.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 522,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863997.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534056.1",
"strand": false,
"transcript": "ENST00000863997.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 517,
"aa_ref": "A",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000956913.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1132G>C",
"hgvs_p": "p.Ala378Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626972.1",
"strand": false,
"transcript": "ENST00000956913.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 510,
"aa_ref": "A",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5981,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001290205.2",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1111G>C",
"hgvs_p": "p.Ala371Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277134.1",
"strand": false,
"transcript": "NM_001290205.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 509,
"aa_ref": "A",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918280.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1327G>C",
"hgvs_p": "p.Ala443Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588339.1",
"strand": false,
"transcript": "ENST00000918280.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 479,
"aa_ref": "A",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918278.1",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.1018G>C",
"hgvs_p": "p.Ala340Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588337.1",
"strand": false,
"transcript": "ENST00000918278.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 461,
"aa_ref": "A",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5798,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1386,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001290206.2",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Ala322Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277135.1",
"strand": false,
"transcript": "NM_001290206.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 423,
"aa_ref": "A",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5684,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1272,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001290207.2",
"gene_hgnc_id": 18714,
"gene_symbol": "DCP1A",
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277136.1",
"strand": false,
"transcript": "NM_001290207.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 748,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000790869.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000302984",
"hgvs_c": "n.279-774C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
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