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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: 3-55470112-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=55470112&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WNT5A",
"hgnc_id": 12784,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Asp375Asn",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_003392.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_score": -3,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.8597,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal dominant Robinow syndrome 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8093805313110352,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5841,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1143,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003392.7",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Asp375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264634.9",
"protein_coding": true,
"protein_id": "NP_003383.4",
"strand": false,
"transcript": "NM_003392.7",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5841,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1143,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000264634.9",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Asp375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003392.7",
"protein_coding": true,
"protein_id": "ENSP00000264634.4",
"strand": false,
"transcript": "ENST00000264634.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6042,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1143,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000474267.5",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Asp375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417310.1",
"strand": false,
"transcript": "ENST00000474267.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5582,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256105.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243034.1",
"strand": false,
"transcript": "NM_001256105.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5551,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001377271.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364200.1",
"strand": false,
"transcript": "NM_001377271.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5636,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001377272.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364201.1",
"strand": false,
"transcript": "NM_001377272.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1299,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000497027.5",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420104.1",
"strand": false,
"transcript": "ENST00000497027.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 394,
"aa_ref": "D",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5664,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017007127.2",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Asp389Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862616.1",
"strand": false,
"transcript": "XM_017007127.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8095,
"cdna_start": 3698,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011534086.3",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532388.1",
"strand": false,
"transcript": "XM_011534086.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6252,
"cdna_start": 1855,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011534088.3",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532390.1",
"strand": false,
"transcript": "XM_011534088.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5753,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011534089.2",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532391.1",
"strand": false,
"transcript": "XM_011534089.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8100,
"cdna_start": 3703,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017007128.2",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862617.1",
"strand": false,
"transcript": "XM_017007128.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5623,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047448852.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304808.1",
"strand": false,
"transcript": "XM_047448852.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9797,
"cdna_start": 5400,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047448853.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304809.1",
"strand": false,
"transcript": "XM_047448853.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9914,
"cdna_start": 5517,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047448854.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304810.1",
"strand": false,
"transcript": "XM_047448854.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9613,
"cdna_start": 5216,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448855.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304811.1",
"strand": false,
"transcript": "XM_047448855.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11058,
"cdna_start": 6661,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047448856.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304812.1",
"strand": false,
"transcript": "XM_047448856.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9649,
"cdna_start": 5252,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448857.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304813.1",
"strand": false,
"transcript": "XM_047448857.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9396,
"cdna_start": 4999,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047448858.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304814.1",
"strand": false,
"transcript": "XM_047448858.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11371,
"cdna_start": 6974,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448859.1",
"gene_hgnc_id": 12784,
"gene_symbol": "WNT5A",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Asp360Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304815.1",
"strand": false,
"transcript": "XM_047448859.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11109,
"cdna_start": 6712,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047448860.1",
"gene_hgnc_id": 12784,
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]
}