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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: 17-43491249-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43491249&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BS2_Supporting"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "DHX8",
"hgnc_id": 2749,
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_004941.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2_Supporting",
"acmg_score": -3,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.1038,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"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": "Benign",
"computational_score_selected": 0.17101696133613586,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5549,
"cdna_start": 455,
"cds_end": null,
"cds_length": 3663,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004941.3",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262415.8",
"protein_coding": true,
"protein_id": "NP_004932.1",
"strand": true,
"transcript": "NM_004941.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5549,
"cdna_start": 455,
"cds_end": null,
"cds_length": 3663,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000262415.8",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004941.3",
"protein_coding": true,
"protein_id": "ENSP00000262415.2",
"strand": true,
"transcript": "ENST00000262415.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1252,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4280,
"cdna_start": 446,
"cds_end": null,
"cds_length": 3759,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958205.1",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628264.1",
"strand": true,
"transcript": "ENST00000958205.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": 446,
"cds_end": null,
"cds_length": 3684,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958204.1",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628263.1",
"strand": true,
"transcript": "ENST00000958204.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5543,
"cdna_start": 455,
"cds_end": null,
"cds_length": 3657,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001322221.2",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309150.1",
"strand": true,
"transcript": "NM_001322221.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4217,
"cdna_start": 478,
"cds_end": null,
"cds_length": 3657,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872045.1",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542104.1",
"strand": true,
"transcript": "ENST00000872045.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3801,
"cdna_start": 455,
"cds_end": null,
"cds_length": 3546,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001302623.3",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289552.1",
"strand": true,
"transcript": "NM_001302623.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3809,
"cdna_start": 467,
"cds_end": null,
"cds_length": 3546,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000540306.5",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437886.1",
"strand": true,
"transcript": "ENST00000540306.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3795,
"cdna_start": 455,
"cds_end": null,
"cds_length": 3540,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001322218.3",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309147.1",
"strand": true,
"transcript": "NM_001322218.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1177,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4104,
"cdna_start": 488,
"cds_end": null,
"cds_length": 3534,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872044.1",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542103.1",
"strand": true,
"transcript": "ENST00000872044.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 455,
"cds_end": null,
"cds_length": 3510,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001322219.2",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309148.1",
"strand": true,
"transcript": "NM_001322219.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 455,
"cds_end": null,
"cds_length": 3510,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000589898.2",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466900.2",
"strand": true,
"transcript": "ENST00000589898.2",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4079,
"cdna_start": 455,
"cds_end": null,
"cds_length": 3459,
"cds_start": 392,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001322220.3",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309149.1",
"strand": true,
"transcript": "NM_001322220.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5463,
"cdna_start": 369,
"cds_end": null,
"cds_length": 3390,
"cds_start": 119,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001322217.2",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309146.1",
"strand": true,
"transcript": "NM_001322217.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 945,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5631,
"cdna_start": null,
"cds_end": null,
"cds_length": 2838,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001322216.2",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.-516G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309145.1",
"strand": true,
"transcript": "NM_001322216.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 945,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5631,
"cdna_start": null,
"cds_end": null,
"cds_length": 2838,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001322216.2",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "c.-516G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309145.1",
"strand": true,
"transcript": "NM_001322216.2",
"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": 6215,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000587044.1",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "n.56G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000587044.1",
"transcript_support_level": 2
},
{
"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": 590,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000592258.5",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "n.*144G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467834.1",
"strand": true,
"transcript": "ENST00000592258.5",
"transcript_support_level": 2
},
{
"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": 4820,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000650571.1",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "n.392G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496923.1",
"strand": true,
"transcript": "ENST00000650571.1",
"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": 5799,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_136225.2",
"gene_hgnc_id": 2749,
"gene_symbol": "DHX8",
"hgvs_c": "n.455G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_136225.2",
"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": 5545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
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{
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{
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"feature": "NR_136228.3",
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{
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],
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"dbsnp": "rs1053845583",
"effect": "missense_variant,splice_region_variant",
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"pathogenicity_classification_combined": "Uncertain significance",
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}
]
}