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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: 11-73975507-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=73975507&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "UCP2",
"hgnc_id": 12518,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_003355.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 68,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003355.3",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000663595.2",
"protein_coding": true,
"protein_id": "NP_003346.2",
"strand": false,
"transcript": "NM_003355.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000663595.2",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003355.3",
"protein_coding": true,
"protein_id": "ENSP00000499695.1",
"strand": false,
"transcript": "ENST00000663595.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000310473.11",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312029.3",
"strand": false,
"transcript": "ENST00000310473.11",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 320,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 963,
"cds_start": 832,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880151.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550210.1",
"strand": false,
"transcript": "ENST00000880151.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001381943.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368872.1",
"strand": false,
"transcript": "NM_001381943.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1550,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001381944.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368873.1",
"strand": false,
"transcript": "NM_001381944.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001381945.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368874.1",
"strand": false,
"transcript": "NM_001381945.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001381947.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368876.1",
"strand": false,
"transcript": "NM_001381947.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001381948.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368877.1",
"strand": false,
"transcript": "NM_001381948.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880147.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550206.1",
"strand": false,
"transcript": "ENST00000880147.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880149.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550208.1",
"strand": false,
"transcript": "ENST00000880149.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1635,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880150.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550209.1",
"strand": false,
"transcript": "ENST00000880150.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880152.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550211.1",
"strand": false,
"transcript": "ENST00000880152.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 979,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880153.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550212.1",
"strand": false,
"transcript": "ENST00000880153.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880154.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550213.1",
"strand": false,
"transcript": "ENST00000880154.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 930,
"cds_start": 799,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952750.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622809.1",
"strand": false,
"transcript": "ENST00000952750.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 285,
"aa_ref": "R",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": 936,
"cds_end": null,
"cds_length": 858,
"cds_start": 727,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952751.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622810.1",
"strand": false,
"transcript": "ENST00000952751.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 275,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 828,
"cds_start": 697,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001381949.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368878.1",
"strand": false,
"transcript": "NM_001381949.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 262,
"aa_ref": "R",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": 966,
"cds_end": null,
"cds_length": 789,
"cds_start": 658,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000912379.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582438.1",
"strand": false,
"transcript": "ENST00000912379.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 244,
"aa_ref": "R",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 983,
"cds_end": null,
"cds_length": 735,
"cds_start": 604,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001381950.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Arg202*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368879.1",
"strand": false,
"transcript": "NM_001381950.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 244,
"aa_ref": "R",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 735,
"cds_start": 604,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880148.1",
"gene_hgnc_id": 12518,
"gene_symbol": "UCP2",
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Arg202*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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