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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: 17-76386445-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76386445&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPHK1",
"hgnc_id": 11240,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Pro190Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_182965.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_score": -2,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": 0.3545,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.915635347366333,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142601.2",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000592299.6",
"protein_coding": true,
"protein_id": "NP_001136073.1",
"strand": true,
"transcript": "NM_001142601.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000592299.6",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001142601.2",
"protein_coding": true,
"protein_id": "ENSP00000465726.2",
"strand": true,
"transcript": "ENST00000592299.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 470,
"aa_ref": "P",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1413,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000323374.8",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Pro190Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313681.3",
"strand": true,
"transcript": "ENST00000323374.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1197,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000590959.5",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468547.1",
"strand": true,
"transcript": "ENST00000590959.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000392496.3",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376285.2",
"strand": true,
"transcript": "ENST00000392496.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 470,
"aa_ref": "P",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1413,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_182965.3",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Pro190Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_892010.2",
"strand": true,
"transcript": "NM_182965.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1197,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_021972.4",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_068807.2",
"strand": true,
"transcript": "NM_021972.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 1197,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960428.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630487.1",
"strand": true,
"transcript": "ENST00000960428.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001142602.2",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136074.1",
"strand": true,
"transcript": "NM_001142602.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001355139.2",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001342068.1",
"strand": true,
"transcript": "NM_001355139.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000545180.5",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440970.1",
"strand": true,
"transcript": "ENST00000545180.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889756.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559815.1",
"strand": true,
"transcript": "ENST00000889756.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889758.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559817.1",
"strand": true,
"transcript": "ENST00000889758.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889759.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559818.1",
"strand": true,
"transcript": "ENST00000889759.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 597,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889760.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559819.1",
"strand": true,
"transcript": "ENST00000889760.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 631,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889761.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559820.1",
"strand": true,
"transcript": "ENST00000889761.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 653,
"cds_end": null,
"cds_length": 1155,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960427.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630486.1",
"strand": true,
"transcript": "ENST00000960427.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 576,
"cds_end": null,
"cds_length": 1134,
"cds_start": 290,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889757.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Pro97Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559816.1",
"strand": true,
"transcript": "ENST00000889757.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1134,
"cds_start": 290,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000960429.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Pro97Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630488.1",
"strand": true,
"transcript": "ENST00000960429.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 333,
"aa_ref": "P",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1002,
"cds_start": 158,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889762.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.158C>T",
"hgvs_p": "p.Pro53Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559821.1",
"strand": true,
"transcript": "ENST00000889762.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 151,
"aa_ref": "P",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 858,
"cdna_start": 713,
"cds_end": null,
"cds_length": 456,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000588682.5",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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]
}