← 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: 8-141155921-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=141155921&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DENND3",
"hgnc_id": 29134,
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001362798.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0875,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05054503679275513,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3837,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001352890.3",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000519811.6",
"protein_coding": true,
"protein_id": "NP_001339819.2",
"strand": true,
"transcript": "NM_001352890.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3837,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000519811.6",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001352890.3",
"protein_coding": true,
"protein_id": "ENSP00000428714.1",
"strand": true,
"transcript": "ENST00000519811.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "V",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4740,
"cdna_start": 928,
"cds_end": null,
"cds_length": 3441,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000424248.2",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Val303Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410594.1",
"strand": true,
"transcript": "ENST00000424248.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1296,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6896,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3891,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001362798.2",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349727.1",
"strand": true,
"transcript": "NM_001362798.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5515,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3825,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000885117.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555176.1",
"strand": true,
"transcript": "ENST00000885117.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5478,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 3636,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_014957.5",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.946G>T",
"hgvs_p": "p.Val316Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055772.3",
"strand": true,
"transcript": "NM_014957.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1202,
"aa_ref": "V",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 3609,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000518668.5",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1075G>T",
"hgvs_p": "p.Val359Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428276.1",
"strand": true,
"transcript": "ENST00000518668.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "V",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5438,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 3597,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000262585.6",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Val303Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262585.2",
"strand": true,
"transcript": "ENST00000262585.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6630,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3861,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011516933.3",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515235.2",
"strand": true,
"transcript": "XM_011516933.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005250840.6",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250897.3",
"strand": true,
"transcript": "XM_005250840.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1234,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6474,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3705,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047421591.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277547.1",
"strand": true,
"transcript": "XM_047421591.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5371,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3681,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005250841.5",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250898.3",
"strand": true,
"transcript": "XM_005250841.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "V",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 3657,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005250842.5",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Val305Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250899.1",
"strand": true,
"transcript": "XM_005250842.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5806,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3654,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011516934.4",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515236.2",
"strand": true,
"transcript": "XM_011516934.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "V",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6396,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 3627,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047421592.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Val305Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277548.1",
"strand": true,
"transcript": "XM_047421592.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1200,
"aa_ref": "V",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5293,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 3603,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047421593.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Val305Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277549.1",
"strand": true,
"transcript": "XM_047421593.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1166,
"aa_ref": "V",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 3501,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047421594.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Val305Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277550.1",
"strand": true,
"transcript": "XM_047421594.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5650,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3498,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047421595.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277551.1",
"strand": true,
"transcript": "XM_047421595.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3689,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3471,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047421596.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277552.1",
"strand": true,
"transcript": "XM_047421596.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "V",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5137,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 3447,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047421597.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Val305Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277553.1",
"strand": true,
"transcript": "XM_047421597.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "V",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5572,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 3420,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047421598.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Val305Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277554.1",
"strand": true,
"transcript": "XM_047421598.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3255,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047421599.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277555.1",
"strand": true,
"transcript": "XM_047421599.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1048,
"aa_ref": "V",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 509,
"cds_end": null,
"cds_length": 3147,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017013242.2",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.403G>T",
"hgvs_p": "p.Val135Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868731.1",
"strand": true,
"transcript": "XM_017013242.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 3108,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011516937.3",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515239.2",
"strand": true,
"transcript": "XM_011516937.3",
"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": 381,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000521477.5",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "n.28G>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": "ENST00000521477.5",
"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": 5942,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_148197.3",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "n.1266G>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_148197.3",
"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": 3318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XR_007060719.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "n.1266G>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_007060719.1",
"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": 3084,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XR_007060720.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "n.1032G>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_007060720.1",
"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": 2547,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XR_007060721.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "n.1032G>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_007060721.1",
"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": 2660,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XR_007060722.1",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "n.1032G>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_007060722.1",
"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": 2781,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XR_928312.4",
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"hgvs_c": "n.1266G>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_928312.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs767984391",
"effect": "missense_variant",
"frequency_reference_population": 0.0000031009367,
"gene_hgnc_id": 29134,
"gene_symbol": "DENND3",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205448,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131415,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.333,
"pos": 141155921,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.015,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001362798.2"
}
]
}