← 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: 11-61309037-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61309037&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DDB1",
"hgnc_id": 2717,
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Ala869Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001923.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 1067,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "A",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001923.5",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Ala869Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301764.12",
"protein_coding": true,
"protein_id": "NP_001914.3",
"strand": false,
"transcript": "NM_001923.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "A",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000301764.12",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Ala869Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001923.5",
"protein_coding": true,
"protein_id": "ENSP00000301764.7",
"strand": false,
"transcript": "ENST00000301764.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3906,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000540166.5",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.2607C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000440269.1",
"strand": false,
"transcript": "ENST00000540166.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "A",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4369,
"cdna_start": 2876,
"cds_end": null,
"cds_length": 3555,
"cds_start": 2739,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000954153.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2739C>T",
"hgvs_p": "p.Ala913Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624212.1",
"strand": false,
"transcript": "ENST00000954153.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "A",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4324,
"cdna_start": 2828,
"cds_end": null,
"cds_length": 3549,
"cds_start": 2733,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000954157.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2733C>T",
"hgvs_p": "p.Ala911Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624216.1",
"strand": false,
"transcript": "ENST00000954157.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1147,
"aa_ref": "A",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4261,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 3444,
"cds_start": 2628,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000867658.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2628C>T",
"hgvs_p": "p.Ala876Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537717.1",
"strand": false,
"transcript": "ENST00000867658.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1147,
"aa_ref": "A",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4230,
"cdna_start": 2729,
"cds_end": null,
"cds_length": 3444,
"cds_start": 2628,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000867660.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2628C>T",
"hgvs_p": "p.Ala876Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537719.1",
"strand": false,
"transcript": "ENST00000867660.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "A",
"aa_start": 871,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 2755,
"cds_end": null,
"cds_length": 3429,
"cds_start": 2613,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000920440.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2613C>T",
"hgvs_p": "p.Ala871Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590499.1",
"strand": false,
"transcript": "ENST00000920440.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "A",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4426,
"cdna_start": 2929,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000680367.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Ala869Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506223.1",
"strand": false,
"transcript": "ENST00000680367.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "A",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4348,
"cdna_start": 2851,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000681803.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Ala869Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506685.1",
"strand": false,
"transcript": "ENST00000681803.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "A",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 2921,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000920436.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Ala869Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590495.1",
"strand": false,
"transcript": "ENST00000920436.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "A",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4618,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000954149.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Ala869Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624208.1",
"strand": false,
"transcript": "ENST00000954149.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "A",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4472,
"cdna_start": 2971,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000954150.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Ala869Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624209.1",
"strand": false,
"transcript": "ENST00000954150.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1138,
"aa_ref": "A",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 2743,
"cds_end": null,
"cds_length": 3417,
"cds_start": 2601,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000920438.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2601C>T",
"hgvs_p": "p.Ala867Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590497.1",
"strand": false,
"transcript": "ENST00000920438.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "A",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 2749,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2598,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000954152.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Ala866Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624211.1",
"strand": false,
"transcript": "ENST00000954152.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "A",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": 2724,
"cds_end": null,
"cds_length": 3405,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000920447.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Ala869Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590506.1",
"strand": false,
"transcript": "ENST00000920447.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "A",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4190,
"cdna_start": 2698,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2559,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000920444.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2559C>T",
"hgvs_p": "p.Ala853Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590503.1",
"strand": false,
"transcript": "ENST00000920444.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1112,
"aa_ref": "A",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 3339,
"cds_start": 2523,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000920439.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2523C>T",
"hgvs_p": "p.Ala841Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590498.1",
"strand": false,
"transcript": "ENST00000920439.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1108,
"aa_ref": "A",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4113,
"cdna_start": 2621,
"cds_end": null,
"cds_length": 3327,
"cds_start": 2511,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000954155.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2511C>T",
"hgvs_p": "p.Ala837Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624214.1",
"strand": false,
"transcript": "ENST00000954155.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "A",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 2650,
"cds_end": null,
"cds_length": 3324,
"cds_start": 2508,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000681935.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2508C>T",
"hgvs_p": "p.Ala836Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505717.1",
"strand": false,
"transcript": "ENST00000681935.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "A",
"aa_start": 833,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 2604,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2499,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000867659.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2499C>T",
"hgvs_p": "p.Ala833Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537718.1",
"strand": false,
"transcript": "ENST00000867659.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1101,
"aa_ref": "A",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4183,
"cdna_start": 2687,
"cds_end": null,
"cds_length": 3306,
"cds_start": 2490,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000954151.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2490C>T",
"hgvs_p": "p.Ala830Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624210.1",
"strand": false,
"transcript": "ENST00000954151.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "A",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4124,
"cdna_start": 2623,
"cds_end": null,
"cds_length": 3297,
"cds_start": 2481,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000867657.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2481C>T",
"hgvs_p": "p.Ala827Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537716.1",
"strand": false,
"transcript": "ENST00000867657.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2442,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000920437.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2442C>T",
"hgvs_p": "p.Ala814Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590496.1",
"strand": false,
"transcript": "ENST00000920437.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "A",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4184,
"cdna_start": 2687,
"cds_end": null,
"cds_length": 3255,
"cds_start": 2439,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000679588.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2439C>T",
"hgvs_p": "p.Ala813Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506134.1",
"strand": false,
"transcript": "ENST00000679588.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1079,
"aa_ref": "A",
"aa_start": 808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 3240,
"cds_start": 2424,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000920442.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2424C>T",
"hgvs_p": "p.Ala808Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590501.1",
"strand": false,
"transcript": "ENST00000920442.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "A",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4033,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 3210,
"cds_start": 2394,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000679712.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2394C>T",
"hgvs_p": "p.Ala798Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504878.1",
"strand": false,
"transcript": "ENST00000679712.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "A",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 2484,
"cds_end": null,
"cds_length": 3201,
"cds_start": 2385,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000680075.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2385C>T",
"hgvs_p": "p.Ala795Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504954.1",
"strand": false,
"transcript": "ENST00000680075.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "A",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 3186,
"cds_start": 2370,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000680602.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2370C>T",
"hgvs_p": "p.Ala790Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505437.1",
"strand": false,
"transcript": "ENST00000680602.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3915,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2319,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000954156.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2319C>T",
"hgvs_p": "p.Ala773Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624215.1",
"strand": false,
"transcript": "ENST00000954156.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 2405,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2319,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000954158.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2319C>T",
"hgvs_p": "p.Ala773Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624217.1",
"strand": false,
"transcript": "ENST00000954158.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1027,
"aa_ref": "A",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3937,
"cdna_start": 2440,
"cds_end": null,
"cds_length": 3084,
"cds_start": 2268,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000680717.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2268C>T",
"hgvs_p": "p.Ala756Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506457.1",
"strand": false,
"transcript": "ENST00000680717.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "A",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 3066,
"cds_start": 2268,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000954154.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2268C>T",
"hgvs_p": "p.Ala756Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624213.1",
"strand": false,
"transcript": "ENST00000954154.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "A",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3821,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2202,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000920445.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2202C>T",
"hgvs_p": "p.Ala734Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590504.1",
"strand": false,
"transcript": "ENST00000920445.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 977,
"aa_ref": "A",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 2235,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2118,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000920446.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2118C>T",
"hgvs_p": "p.Ala706Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590505.1",
"strand": false,
"transcript": "ENST00000920446.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 956,
"aa_ref": "A",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2055,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000920441.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2055C>T",
"hgvs_p": "p.Ala685Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590500.1",
"strand": false,
"transcript": "ENST00000920441.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1012,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": null,
"cds_end": null,
"cds_length": 3039,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920443.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "c.2277+2747C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590502.1",
"strand": false,
"transcript": "ENST00000920443.1",
"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": 4920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000535283.6",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.*1141C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441825.2",
"strand": false,
"transcript": "ENST00000535283.6",
"transcript_support_level": 2
},
{
"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": 1767,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000539332.2",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.1261C>T",
"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": "ENST00000539332.2",
"transcript_support_level": 2
},
{
"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": 3902,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000679855.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.2749C>T",
"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": "ENST00000679855.1",
"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": 4459,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000680250.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.2749C>T",
"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": "ENST00000680250.1",
"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": 4363,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000680357.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.*2070C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506385.1",
"strand": false,
"transcript": "ENST00000680357.1",
"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": 3110,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000680452.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.1621C>T",
"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": "ENST00000680452.1",
"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": 4335,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000680881.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.2846C>T",
"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": "ENST00000680881.1",
"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": 3114,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000680959.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.1626C>T",
"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": "ENST00000680959.1",
"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": 4329,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000681188.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.*2471C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506472.1",
"strand": false,
"transcript": "ENST00000681188.1",
"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": 3088,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000681368.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.2749C>T",
"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": "ENST00000681368.1",
"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": 4920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000535283.6",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.*1141C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441825.2",
"strand": false,
"transcript": "ENST00000535283.6",
"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": 4363,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000680357.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.*2070C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506385.1",
"strand": false,
"transcript": "ENST00000680357.1",
"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": 4329,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000681188.1",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.*2471C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506472.1",
"strand": false,
"transcript": "ENST00000681188.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2230358",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00066105276,
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"gnomad_exomes_ac": 684,
"gnomad_exomes_af": 0.000467886,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_ac": 383,
"gnomad_genomes_af": 0.00251646,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 5,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.248,
"pos": 61309037,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001923.5"
}
]
}