← Back to variant description
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: 8-38249709-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38249709&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "DDHD2",
"hgnc_id": 29106,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015214.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1135,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13902002573013306,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_015214.3",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397166.7",
"protein_coding": true,
"protein_id": "NP_056029.2",
"strand": true,
"transcript": "NM_015214.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000397166.7",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015214.3",
"protein_coding": true,
"protein_id": "ENSP00000380352.2",
"strand": true,
"transcript": "ENST00000397166.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 719,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000853787.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523846.1",
"strand": true,
"transcript": "ENST00000853787.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4599,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001164232.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157704.1",
"strand": true,
"transcript": "NM_001164232.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001362911.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349840.1",
"strand": true,
"transcript": "NM_001362911.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001362912.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349841.1",
"strand": true,
"transcript": "NM_001362912.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4735,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001362914.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349843.1",
"strand": true,
"transcript": "NM_001362914.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000520272.6",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429932.2",
"strand": true,
"transcript": "ENST00000520272.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000853780.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523839.1",
"strand": true,
"transcript": "ENST00000853780.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3677,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000853781.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523840.1",
"strand": true,
"transcript": "ENST00000853781.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000853786.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523845.1",
"strand": true,
"transcript": "ENST00000853786.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000853790.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523849.1",
"strand": true,
"transcript": "ENST00000853790.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000935428.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605487.1",
"strand": true,
"transcript": "ENST00000935428.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970138.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640197.1",
"strand": true,
"transcript": "ENST00000970138.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970139.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640198.1",
"strand": true,
"transcript": "ENST00000970139.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970140.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640199.1",
"strand": true,
"transcript": "ENST00000970140.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2557,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970142.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640201.1",
"strand": true,
"transcript": "ENST00000970142.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970143.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640202.1",
"strand": true,
"transcript": "ENST00000970143.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970145.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640204.1",
"strand": true,
"transcript": "ENST00000970145.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970146.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640205.1",
"strand": true,
"transcript": "ENST00000970146.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 710,
"aa_ref": "A",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1247,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970144.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640203.1",
"strand": true,
"transcript": "ENST00000970144.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 705,
"aa_ref": "A",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4597,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1232,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000853783.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1232C>T",
"hgvs_p": "p.Ala411Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523842.1",
"strand": true,
"transcript": "ENST00000853783.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 705,
"aa_ref": "A",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5794,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1232,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970141.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1232C>T",
"hgvs_p": "p.Ala411Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640200.1",
"strand": true,
"transcript": "ENST00000970141.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 699,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970147.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640206.1",
"strand": true,
"transcript": "ENST00000970147.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 681,
"aa_ref": "A",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4592,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1160,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001362913.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Ala387Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349842.1",
"strand": true,
"transcript": "NM_001362913.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 681,
"aa_ref": "A",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4540,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1160,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000853785.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Ala387Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523844.1",
"strand": true,
"transcript": "ENST00000853785.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 675,
"aa_ref": "A",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4281,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1142,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000853789.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1142C>T",
"hgvs_p": "p.Ala381Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523848.1",
"strand": true,
"transcript": "ENST00000853789.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 670,
"aa_ref": "A",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4492,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1127,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000853782.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523841.1",
"strand": true,
"transcript": "ENST00000853782.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 596,
"aa_ref": "A",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4541,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1791,
"cds_start": 905,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000935429.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605488.1",
"strand": true,
"transcript": "ENST00000935429.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 566,
"aa_ref": "A",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4104,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1701,
"cds_start": 815,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000853788.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Ala272Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523847.1",
"strand": true,
"transcript": "ENST00000853788.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8480,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011544456.3",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542758.1",
"strand": true,
"transcript": "XM_011544456.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1250,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047421614.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Ala417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277570.1",
"strand": true,
"transcript": "XM_047421614.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 681,
"aa_ref": "A",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1160,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047421615.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Ala387Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277571.1",
"strand": true,
"transcript": "XM_047421615.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 681,
"aa_ref": "A",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4559,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1160,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047421616.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Ala387Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277572.1",
"strand": true,
"transcript": "XM_047421616.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 681,
"aa_ref": "A",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1160,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047421617.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Ala387Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277573.1",
"strand": true,
"transcript": "XM_047421617.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 679,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": null,
"cds_end": null,
"cds_length": 2040,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853784.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.1248+1874C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523843.1",
"strand": true,
"transcript": "ENST00000853784.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 181,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 548,
"cdna_start": null,
"cds_end": null,
"cds_length": 546,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000532106.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "c.502-2203C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437097.1",
"strand": true,
"transcript": "ENST00000532106.1",
"transcript_support_level": 4
},
{
"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": 4113,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000517385.6",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.1034C>T",
"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": "ENST00000517385.6",
"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": 830,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000528504.5",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.242C>T",
"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": "ENST00000528504.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 861,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000528888.5",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.823C>T",
"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": "ENST00000528888.5",
"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": 2543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000529845.6",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.1250C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431638.2",
"strand": true,
"transcript": "ENST00000529845.6",
"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": 4614,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NR_156416.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.1465C>T",
"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_156416.2",
"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": 3607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NR_156417.2",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.1465C>T",
"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_156417.2",
"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": 2878,
"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": 11,
"exon_rank_end": null,
"feature": "XR_001745504.3",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.1533C>T",
"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": "XR_001745504.3",
"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": 8542,
"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": 11,
"exon_rank_end": null,
"feature": "XR_007060723.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.1533C>T",
"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": "XR_007060723.1",
"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": 2940,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XR_007060724.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.1533C>T",
"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": "XR_007060724.1",
"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": 2840,
"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": 11,
"exon_rank_end": null,
"feature": "XR_007060725.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.1533C>T",
"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": "XR_007060725.1",
"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": 2850,
"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": 10,
"exon_rank_end": null,
"feature": "XR_007060726.1",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.1443C>T",
"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": "XR_007060726.1",
"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": 3165,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000520176.5",
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"hgvs_c": "n.-70C>T",
"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": "ENST00000520176.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.001172087846363,
"dbsnp": "rs376393703",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 6.8884754e-7,
"gene_hgnc_id": 29106,
"gene_symbol": "DDHD2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.88848e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.253,
"pos": 38249709,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.06,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.035999998450279236,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015214.3"
}
]
}