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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: 18-27952196-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=27952196&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": "CDH2",
"hgnc_id": 1759,
"hgvs_c": "c.2678G>A",
"hgvs_p": "p.Arg893Gln",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001792.5",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CDH2-AS1",
"hgnc_id": 40138,
"hgvs_c": "n.223-2322C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000423367.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_score": -2,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.968,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8785395622253418,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "R",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4016,
"cdna_start": 2786,
"cds_end": null,
"cds_length": 2721,
"cds_start": 2678,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001792.5",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2678G>A",
"hgvs_p": "p.Arg893Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269141.8",
"protein_coding": true,
"protein_id": "NP_001783.2",
"strand": false,
"transcript": "NM_001792.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "R",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4016,
"cdna_start": 2786,
"cds_end": null,
"cds_length": 2721,
"cds_start": 2678,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000269141.8",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2678G>A",
"hgvs_p": "p.Arg893Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001792.5",
"protein_coding": true,
"protein_id": "ENSP00000269141.3",
"strand": false,
"transcript": "ENST00000269141.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 905,
"aa_ref": "R",
"aa_start": 892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3798,
"cdna_start": 2764,
"cds_end": null,
"cds_length": 2718,
"cds_start": 2675,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000876838.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2675G>A",
"hgvs_p": "p.Arg892Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546897.1",
"strand": false,
"transcript": "ENST00000876838.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 875,
"aa_ref": "R",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": 2678,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2585,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001308176.2",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Arg862Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295105.1",
"strand": false,
"transcript": "NM_001308176.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 875,
"aa_ref": "R",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 2622,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2585,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000399380.7",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Arg862Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382312.3",
"strand": false,
"transcript": "ENST00000399380.7",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 2626,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2522,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876839.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2522G>A",
"hgvs_p": "p.Arg841Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546898.1",
"strand": false,
"transcript": "ENST00000876839.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 852,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2516,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967818.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2516G>A",
"hgvs_p": "p.Arg839Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637877.1",
"strand": false,
"transcript": "ENST00000967818.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": 2687,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2513,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967816.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2513G>A",
"hgvs_p": "p.Arg838Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637875.1",
"strand": false,
"transcript": "ENST00000967816.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2423,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000430882.6",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2423G>A",
"hgvs_p": "p.Arg808Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412120.2",
"strand": false,
"transcript": "ENST00000430882.6",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 2702,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2423,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000676445.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2423G>A",
"hgvs_p": "p.Arg808Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502206.1",
"strand": false,
"transcript": "ENST00000676445.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 800,
"aa_ref": "R",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 2473,
"cds_end": null,
"cds_length": 2403,
"cds_start": 2360,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000967819.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2360G>A",
"hgvs_p": "p.Arg787Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637878.1",
"strand": false,
"transcript": "ENST00000967819.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000967815.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637873.1",
"strand": false,
"transcript": "ENST00000967815.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3997,
"cdna_start": 2767,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2423,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011525788.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2423G>A",
"hgvs_p": "p.Arg808Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524090.1",
"strand": false,
"transcript": "XM_011525788.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675173.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.1149+11161G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502696.1",
"strand": false,
"transcript": "ENST00000675173.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 848,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": null,
"cds_end": null,
"cds_length": 2547,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025514.3",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "c.2514+11161G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881003.1",
"strand": false,
"transcript": "XM_017025514.3",
"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": 3627,
"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": "ENST00000674998.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "n.2643G>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": "ENST00000674998.1",
"transcript_support_level": null
},
{
"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": 3860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675708.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "n.*993G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501654.1",
"strand": false,
"transcript": "ENST00000675708.1",
"transcript_support_level": null
},
{
"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": 3860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675708.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "n.*993G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501654.1",
"strand": false,
"transcript": "ENST00000675708.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 672,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423367.3",
"gene_hgnc_id": 40138,
"gene_symbol": "CDH2-AS1",
"hgvs_c": "n.223-2322C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000423367.3",
"transcript_support_level": 3
},
{
"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": 899,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675688.1",
"gene_hgnc_id": 1759,
"gene_symbol": "CDH2",
"hgvs_c": "n.465+11161G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502061.1",
"strand": false,
"transcript": "ENST00000675688.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": null,
"cds_end": null,
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}