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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: 14-75461477-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75461477&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "JDP2",
"hgnc_id": 17546,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Ala96Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001135049.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": 0.998,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "14",
"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": 0.7016788125038147,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5378,
"cdna_start": 507,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001135048.2",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651602.1",
"protein_coding": true,
"protein_id": "NP_001128520.1",
"strand": true,
"transcript": "NM_001135048.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5378,
"cdna_start": 507,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000651602.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001135048.2",
"protein_coding": true,
"protein_id": "ENSP00000498745.1",
"strand": true,
"transcript": "ENST00000651602.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 174,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 479,
"cds_end": null,
"cds_length": 525,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000267569.5",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Ala96Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000267569.5",
"strand": true,
"transcript": "ENST00000267569.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5401,
"cdna_start": 526,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000435893.6",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399587.2",
"strand": true,
"transcript": "ENST00000435893.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 194,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 545,
"cds_end": null,
"cds_length": 585,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000955938.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625997.1",
"strand": true,
"transcript": "ENST00000955938.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 174,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 479,
"cds_end": null,
"cds_length": 525,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001135049.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Ala96Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128521.1",
"strand": true,
"transcript": "NM_001135049.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5273,
"cdna_start": 402,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001135047.2",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128519.1",
"strand": true,
"transcript": "NM_001135047.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3991,
"cdna_start": 526,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_130469.3",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_569736.1",
"strand": true,
"transcript": "NM_130469.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 972,
"cdna_start": 410,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000419727.6",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415558.2",
"strand": true,
"transcript": "ENST00000419727.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": 312,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000437176.5",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409787.1",
"strand": true,
"transcript": "ENST00000437176.5",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3443,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879974.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550033.1",
"strand": true,
"transcript": "ENST00000879974.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 896,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879975.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550034.1",
"strand": true,
"transcript": "ENST00000879975.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 752,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000924615.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594674.1",
"strand": true,
"transcript": "ENST00000924615.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 821,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000924616.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594675.1",
"strand": true,
"transcript": "ENST00000924616.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 780,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000924617.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594676.1",
"strand": true,
"transcript": "ENST00000924617.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 729,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000955939.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625998.1",
"strand": true,
"transcript": "ENST00000955939.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 743,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000955940.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625999.1",
"strand": true,
"transcript": "ENST00000955940.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 971,
"cds_end": null,
"cds_length": 492,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955941.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626000.1",
"strand": true,
"transcript": "ENST00000955941.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 132,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 631,
"cdna_start": 483,
"cds_end": null,
"cds_length": 401,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000559060.5",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452769.1",
"strand": true,
"transcript": "ENST00000559060.5",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 206,
"aa_ref": "A",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5818,
"cdna_start": 947,
"cds_end": null,
"cds_length": 621,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047430942.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Ala128Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286898.1",
"strand": true,
"transcript": "XM_047430942.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 174,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8178,
"cdna_start": 3307,
"cds_end": null,
"cds_length": 525,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047430943.1",
"gene_hgnc_id": 17546,
"gene_symbol": "JDP2",
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Ala96Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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}