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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: 5-16483376-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=16483376&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RETREG1",
"hgnc_id": 25964,
"hgvs_c": "c.555G>A",
"hgvs_p": "p.Met185Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001034850.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": 0.7966,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27707332372665405,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 497,
"aa_ref": "M",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1494,
"cds_start": 555,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001034850.3",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.555G>A",
"hgvs_p": "p.Met185Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306320.10",
"protein_coding": true,
"protein_id": "NP_001030022.1",
"strand": false,
"transcript": "NM_001034850.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 497,
"aa_ref": "M",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1494,
"cds_start": 555,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000306320.10",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.555G>A",
"hgvs_p": "p.Met185Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001034850.3",
"protein_coding": true,
"protein_id": "ENSP00000304642.9",
"strand": false,
"transcript": "ENST00000306320.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 356,
"aa_ref": "M",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1071,
"cds_start": 132,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000399793.6",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.132G>A",
"hgvs_p": "p.Met44Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382691.2",
"strand": false,
"transcript": "ENST00000399793.6",
"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": 1531,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000510362.6",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "n.30G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425089.2",
"strand": false,
"transcript": "ENST00000510362.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 549,
"aa_ref": "M",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3346,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1650,
"cds_start": 711,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000682229.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.711G>A",
"hgvs_p": "p.Met237Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507342.1",
"strand": false,
"transcript": "ENST00000682229.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 496,
"aa_ref": "M",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 578,
"cds_end": null,
"cds_length": 1491,
"cds_start": 555,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000682564.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.555G>A",
"hgvs_p": "p.Met185Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508099.1",
"strand": false,
"transcript": "ENST00000682564.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 451,
"aa_ref": "M",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1356,
"cds_start": 417,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000684521.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.417G>A",
"hgvs_p": "p.Met139Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507521.1",
"strand": false,
"transcript": "ENST00000684521.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 396,
"aa_ref": "M",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 428,
"cds_end": null,
"cds_length": 1191,
"cds_start": 252,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000682142.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.252G>A",
"hgvs_p": "p.Met84Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506804.1",
"strand": false,
"transcript": "ENST00000682142.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 356,
"aa_ref": "M",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1071,
"cds_start": 132,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_019000.5",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.132G>A",
"hgvs_p": "p.Met44Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061873.2",
"strand": false,
"transcript": "NM_019000.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 322,
"aa_ref": "M",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": 174,
"cds_end": null,
"cds_length": 969,
"cds_start": 30,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000682628.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Met10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507536.1",
"strand": false,
"transcript": "ENST00000682628.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 322,
"aa_ref": "M",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1831,
"cdna_start": 358,
"cds_end": null,
"cds_length": 969,
"cds_start": 30,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683414.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Met10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508335.1",
"strand": false,
"transcript": "ENST00000683414.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 322,
"aa_ref": "M",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 191,
"cds_end": null,
"cds_length": 969,
"cds_start": 30,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683539.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.30G>A",
"hgvs_p": "p.Met10Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507466.1",
"strand": false,
"transcript": "ENST00000683539.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 537,
"aa_ref": "M",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1614,
"cds_start": 675,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011514053.4",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Met225Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512355.1",
"strand": false,
"transcript": "XM_011514053.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 396,
"aa_ref": "M",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1191,
"cds_start": 252,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011514054.3",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.252G>A",
"hgvs_p": "p.Met84Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512356.1",
"strand": false,
"transcript": "XM_011514054.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 364,
"aa_ref": "M",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3298,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1095,
"cds_start": 156,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011514055.4",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.156G>A",
"hgvs_p": "p.Met52Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512357.1",
"strand": false,
"transcript": "XM_011514055.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 141,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": null,
"cds_end": null,
"cds_length": 426,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684456.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.-398-4389G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508060.1",
"strand": false,
"transcript": "ENST00000684456.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 43,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 536,
"cdna_start": null,
"cds_end": null,
"cds_length": 132,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682033.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "c.126-8142G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507240.1",
"strand": false,
"transcript": "ENST00000682033.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 585,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000506441.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "n.206G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000506441.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000509977.2",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "n.203G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000509977.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000682982.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "n.578G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000682982.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7708,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000683045.1",
"gene_hgnc_id": 25964,
"gene_symbol": "RETREG1",
"hgvs_c": "n.581G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000683045.1",
"transcript_support_level": null
},
{
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