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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: 11-66509105-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66509105&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DPP3",
"hgnc_id": 3008,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_005700.5",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "ENSG00000256349",
"hgnc_id": null,
"hgvs_c": "c.-52G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000419755.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 47302,
"alphamissense_prediction": null,
"alphamissense_score": 0.1454,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0016162097454071045,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 737,
"aa_ref": "E",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2068,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_130443.4",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000531863.6",
"protein_coding": true,
"protein_id": "NP_569710.2",
"strand": true,
"transcript": "NM_130443.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 737,
"aa_ref": "E",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2068,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000531863.6",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_130443.4",
"protein_coding": true,
"protein_id": "ENSP00000432782.2",
"strand": true,
"transcript": "ENST00000531863.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 2526,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000532677.5",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Glu709Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435284.1",
"strand": true,
"transcript": "ENST00000532677.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 630,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": null,
"cds_end": null,
"cds_length": 1893,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000419755.3",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000256349",
"hgvs_c": "c.-52G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398526.3",
"strand": true,
"transcript": "ENST00000419755.3",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 757,
"aa_ref": "E",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2128,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000883964.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Glu710Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554023.1",
"strand": true,
"transcript": "ENST00000883964.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 745,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 2238,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000883960.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554019.1",
"strand": true,
"transcript": "ENST00000883960.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 745,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 2238,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000914253.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584312.1",
"strand": true,
"transcript": "ENST00000914253.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 741,
"aa_ref": "E",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 2116,
"cds_end": null,
"cds_length": 2226,
"cds_start": 2080,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000883963.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2080G>A",
"hgvs_p": "p.Glu694Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554022.1",
"strand": true,
"transcript": "ENST00000883963.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 741,
"aa_ref": "E",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2226,
"cds_start": 2080,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000962696.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2080G>A",
"hgvs_p": "p.Glu694Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632755.1",
"strand": true,
"transcript": "ENST00000962696.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 737,
"aa_ref": "E",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2068,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_005700.5",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005691.2",
"strand": true,
"transcript": "NM_005700.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 737,
"aa_ref": "E",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2068,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000541961.5",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440502.1",
"strand": true,
"transcript": "ENST00000541961.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 737,
"aa_ref": "E",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2068,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000883957.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554016.1",
"strand": true,
"transcript": "ENST00000883957.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 737,
"aa_ref": "E",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 2208,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2068,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000914249.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584308.1",
"strand": true,
"transcript": "ENST00000914249.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 737,
"aa_ref": "E",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2068,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000914254.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584313.1",
"strand": true,
"transcript": "ENST00000914254.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 735,
"aa_ref": "E",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2208,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000883958.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Glu688Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554017.1",
"strand": true,
"transcript": "ENST00000883958.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 735,
"aa_ref": "E",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 2208,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000883961.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Glu688Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554020.1",
"strand": true,
"transcript": "ENST00000883961.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 733,
"aa_ref": "E",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 2202,
"cds_start": 2056,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000914250.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2056G>A",
"hgvs_p": "p.Glu686Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584309.1",
"strand": true,
"transcript": "ENST00000914250.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 733,
"aa_ref": "E",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 2202,
"cds_start": 2056,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000914252.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2056G>A",
"hgvs_p": "p.Glu686Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584311.1",
"strand": true,
"transcript": "ENST00000914252.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 716,
"aa_ref": "E",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 2047,
"cds_end": null,
"cds_length": 2151,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000883959.1",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.2005G>A",
"hgvs_p": "p.Glu669Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554018.1",
"strand": true,
"transcript": "ENST00000883959.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 707,
"aa_ref": "E",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1978,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001256670.2",
"gene_hgnc_id": 3008,
"gene_symbol": "DPP3",
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Glu660Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243599.1",
"strand": true,
"transcript": "NM_001256670.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 707,
"aa_ref": "E",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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