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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: 7-5905242-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5905242&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCZ1",
"hgnc_id": 21691,
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_015622.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2209,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.44658565521240234,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1449,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015622.6",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325974.9",
"protein_coding": true,
"protein_id": "NP_056437.4",
"strand": true,
"transcript": "NM_015622.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1449,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000325974.9",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015622.6",
"protein_coding": true,
"protein_id": "ENSP00000325681.6",
"strand": true,
"transcript": "ENST00000325974.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 512,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1539,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928077.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598136.1",
"strand": true,
"transcript": "ENST00000928077.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 487,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1464,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928076.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598135.1",
"strand": true,
"transcript": "ENST00000928076.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 481,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1446,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000887570.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557629.1",
"strand": true,
"transcript": "ENST00000887570.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 481,
"aa_ref": "A",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1446,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928073.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598132.1",
"strand": true,
"transcript": "ENST00000928073.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 481,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1446,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928078.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598137.1",
"strand": true,
"transcript": "ENST00000928078.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 479,
"aa_ref": "A",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1440,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928082.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ala221Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598141.1",
"strand": true,
"transcript": "ENST00000928082.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "A",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1419,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928080.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ala214Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598139.1",
"strand": true,
"transcript": "ENST00000928080.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 466,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1718,
"cdna_start": 653,
"cds_end": null,
"cds_length": 1401,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000928079.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Ala208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598138.1",
"strand": true,
"transcript": "ENST00000928079.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 444,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1335,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928075.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598134.1",
"strand": true,
"transcript": "ENST00000928075.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 424,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 779,
"cds_end": null,
"cds_length": 1275,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000887568.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557627.1",
"strand": true,
"transcript": "ENST00000887568.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 423,
"aa_ref": "A",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1272,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000887573.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557632.1",
"strand": true,
"transcript": "ENST00000887573.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 423,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1272,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971175.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641234.1",
"strand": true,
"transcript": "ENST00000971175.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 418,
"aa_ref": "A",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1568,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1257,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000928081.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598140.1",
"strand": true,
"transcript": "ENST00000928081.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1185,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000887571.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557630.1",
"strand": true,
"transcript": "ENST00000887571.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 392,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 500,
"cds_end": null,
"cds_length": 1179,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000887569.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ala134Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557628.1",
"strand": true,
"transcript": "ENST00000887569.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 376,
"aa_ref": "A",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1131,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000928074.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ala118Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598133.1",
"strand": true,
"transcript": "ENST00000928074.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 348,
"aa_ref": "A",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": 273,
"cds_end": null,
"cds_length": 1047,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000928083.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598142.1",
"strand": true,
"transcript": "ENST00000928083.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 319,
"aa_ref": "A",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1099,
"cdna_start": 738,
"cds_end": null,
"cds_length": 960,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047420465.1",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ala224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276421.1",
"strand": true,
"transcript": "XM_047420465.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 78,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": null,
"cds_end": null,
"cds_length": 237,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000628813.2",
"gene_hgnc_id": 21691,
"gene_symbol": "CCZ1",
"hgvs_c": "c.*340C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
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]
}