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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: 20-44424035-GAT-CAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44424035&ref=GAT&alt=CAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HNF4A",
"hgnc_id": 5024,
"hgvs_c": "c.910_912delGATinsCAC",
"hgvs_p": "p.Asp304His",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_000457.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 452,
"aa_ref": "D",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1359,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_175914.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.844_846delGATinsCAC",
"hgvs_p": "p.Asp282His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316673.9",
"protein_coding": true,
"protein_id": "NP_787110.2",
"strand": true,
"transcript": "NM_175914.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 452,
"aa_ref": "D",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1359,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316673.9",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.844_846delGATinsCAC",
"hgvs_p": "p.Asp282His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_175914.5",
"protein_coding": true,
"protein_id": "ENSP00000315180.4",
"strand": true,
"transcript": "ENST00000316673.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 474,
"aa_ref": "D",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1425,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316099.10",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.910_912delGATinsCAC",
"hgvs_p": "p.Asp304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312987.3",
"strand": true,
"transcript": "ENST00000316099.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "D",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1395,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000415691.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.910_912delGATinsCAC",
"hgvs_p": "p.Asp304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412111.1",
"strand": true,
"transcript": "ENST00000415691.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1329,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457232.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.844_846delGATinsCAC",
"hgvs_p": "p.Asp282His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396216.1",
"strand": true,
"transcript": "ENST00000457232.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "D",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1603,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1254,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000443598.6",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.910_912delGATinsCAC",
"hgvs_p": "p.Asp304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410911.2",
"strand": true,
"transcript": "ENST00000443598.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 395,
"aa_ref": "D",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1188,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000609795.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.844_846delGATinsCAC",
"hgvs_p": "p.Asp282His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476609.1",
"strand": true,
"transcript": "ENST00000609795.5",
"transcript_support_level": 1
},
{
"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": 3340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000372920.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "n.*677_*679delGATinsCAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000362011.1",
"strand": true,
"transcript": "ENST00000372920.1",
"transcript_support_level": 1
},
{
"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": 3340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000372920.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "n.*677_*679delGATinsCAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000362011.1",
"strand": true,
"transcript": "ENST00000372920.1",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 474,
"aa_ref": "D",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1425,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000457.6",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.910_912delGATinsCAC",
"hgvs_p": "p.Asp304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000448.3",
"strand": true,
"transcript": "NM_000457.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6581,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1404,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001258355.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.889_891delGATinsCAC",
"hgvs_p": "p.Asp297His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245284.1",
"strand": true,
"transcript": "NM_001258355.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 464,
"aa_ref": "D",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6460,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1395,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_178849.3",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.910_912delGATinsCAC",
"hgvs_p": "p.Asp304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_849180.1",
"strand": true,
"transcript": "NM_178849.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 449,
"aa_ref": "D",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4867,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1350,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287183.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.835_837delGATinsCAC",
"hgvs_p": "p.Asp279His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274112.1",
"strand": true,
"transcript": "NM_001287183.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6366,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1329,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001030003.3",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.844_846delGATinsCAC",
"hgvs_p": "p.Asp282His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001025174.1",
"strand": true,
"transcript": "NM_001030003.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 439,
"aa_ref": "D",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6588,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1320,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287182.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.835_837delGATinsCAC",
"hgvs_p": "p.Asp279His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274111.1",
"strand": true,
"transcript": "NM_001287182.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "D",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1254,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_178850.3",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.910_912delGATinsCAC",
"hgvs_p": "p.Asp304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_849181.1",
"strand": true,
"transcript": "NM_178850.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 395,
"aa_ref": "D",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1188,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001030004.3",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.844_846delGATinsCAC",
"hgvs_p": "p.Asp282His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001025175.1",
"strand": true,
"transcript": "NM_001030004.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 392,
"aa_ref": "D",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1179,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287184.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.835_837delGATinsCAC",
"hgvs_p": "p.Asp279His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274113.1",
"strand": true,
"transcript": "NM_001287184.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 376,
"aa_ref": "D",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1131,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000619550.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.883_885delGATinsCAC",
"hgvs_p": "p.Asp295His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481331.2",
"strand": true,
"transcript": "ENST00000619550.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 474,
"aa_ref": "D",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7837,
"cdna_start": 2391,
"cds_end": null,
"cds_length": 1425,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047440135.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.910_912delGATinsCAC",
"hgvs_p": "p.Asp304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296091.1",
"strand": true,
"transcript": "XM_047440135.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 474,
"aa_ref": "D",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7613,
"cdna_start": 2167,
"cds_end": null,
"cds_length": 1425,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047440136.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.910_912delGATinsCAC",
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