← 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: 5-31410759-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=31410759&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DROSHA",
"hgnc_id": 17904,
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_013235.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_score": -10,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "5",
"clinvar_classification": "Likely benign",
"clinvar_disease": "DROSHA-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5416,
"cdna_start": 4007,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001382508.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344624.8",
"protein_coding": true,
"protein_id": "NP_001369437.1",
"strand": false,
"transcript": "NM_001382508.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5416,
"cdna_start": 4007,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000344624.8",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382508.1",
"protein_coding": true,
"protein_id": "ENSP00000339845.3",
"strand": false,
"transcript": "ENST00000344624.8",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": 3899,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000511367.6",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425979.2",
"strand": false,
"transcript": "ENST00000511367.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "A",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": 3912,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3543,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000513349.5",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3543G>A",
"hgvs_p": "p.Ala1181Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424161.1",
"strand": false,
"transcript": "ENST00000513349.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1388,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4544,
"cdna_start": 3900,
"cds_end": null,
"cds_length": 4167,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000866948.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537007.1",
"strand": false,
"transcript": "ENST00000866948.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1388,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5474,
"cdna_start": 4023,
"cds_end": null,
"cds_length": 4167,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000926014.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596073.1",
"strand": false,
"transcript": "ENST00000926014.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1380,
"aa_ref": "A",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 3891,
"cds_end": null,
"cds_length": 4143,
"cds_start": 3630,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000926025.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3630G>A",
"hgvs_p": "p.Ala1210Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596084.1",
"strand": false,
"transcript": "ENST00000926025.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5340,
"cdna_start": 3931,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_013235.5",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_037367.3",
"strand": false,
"transcript": "NM_013235.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5404,
"cdna_start": 3995,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000866937.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536996.1",
"strand": false,
"transcript": "ENST00000866937.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4667,
"cdna_start": 4065,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000866943.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537002.1",
"strand": false,
"transcript": "ENST00000866943.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5725,
"cdna_start": 4976,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000926013.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596072.1",
"strand": false,
"transcript": "ENST00000926013.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 3908,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000926021.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596080.1",
"strand": false,
"transcript": "ENST00000926021.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "A",
"aa_start": 1218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4462,
"cdna_start": 3862,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3654,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000926027.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3654G>A",
"hgvs_p": "p.Ala1218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596086.1",
"strand": false,
"transcript": "ENST00000926027.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1373,
"aa_ref": "A",
"aa_start": 1217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": 3897,
"cds_end": null,
"cds_length": 4122,
"cds_start": 3651,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000866947.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3651G>A",
"hgvs_p": "p.Ala1217Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537006.1",
"strand": false,
"transcript": "ENST00000866947.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1366,
"aa_ref": "A",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": 3981,
"cds_end": null,
"cds_length": 4101,
"cds_start": 3630,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000866936.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3630G>A",
"hgvs_p": "p.Ala1210Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536995.1",
"strand": false,
"transcript": "ENST00000866936.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1366,
"aa_ref": "A",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 3894,
"cds_end": null,
"cds_length": 4101,
"cds_start": 3630,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000866941.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3630G>A",
"hgvs_p": "p.Ala1210Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537000.1",
"strand": false,
"transcript": "ENST00000866941.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1366,
"aa_ref": "A",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 3840,
"cds_end": null,
"cds_length": 4101,
"cds_start": 3630,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000926022.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3630G>A",
"hgvs_p": "p.Ala1210Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596081.1",
"strand": false,
"transcript": "ENST00000926022.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1365,
"aa_ref": "A",
"aa_start": 1209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 3963,
"cds_end": null,
"cds_length": 4098,
"cds_start": 3627,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000926019.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3627G>A",
"hgvs_p": "p.Ala1209Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596078.1",
"strand": false,
"transcript": "ENST00000926019.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1351,
"aa_ref": "A",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4668,
"cdna_start": 3875,
"cds_end": null,
"cds_length": 4056,
"cds_start": 3543,
"consequences": [
"synonymous_variant"
],
"exon_count": 36,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000926020.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3543G>A",
"hgvs_p": "p.Ala1181Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596079.1",
"strand": false,
"transcript": "ENST00000926020.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1345,
"aa_ref": "A",
"aa_start": 1189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4579,
"cdna_start": 3830,
"cds_end": null,
"cds_length": 4038,
"cds_start": 3567,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000926017.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3567G>A",
"hgvs_p": "p.Ala1189Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596076.1",
"strand": false,
"transcript": "ENST00000926017.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "A",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": 3896,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3543,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001100412.2",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3543G>A",
"hgvs_p": "p.Ala1181Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001093882.1",
"strand": false,
"transcript": "NM_001100412.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "A",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4706,
"cdna_start": 3866,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3543,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000866938.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3543G>A",
"hgvs_p": "p.Ala1181Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536997.1",
"strand": false,
"transcript": "ENST00000866938.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "A",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 3854,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3543,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000866942.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3543G>A",
"hgvs_p": "p.Ala1181Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537001.1",
"strand": false,
"transcript": "ENST00000866942.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "A",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5479,
"cdna_start": 4877,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3543,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000866944.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3543G>A",
"hgvs_p": "p.Ala1181Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537003.1",
"strand": false,
"transcript": "ENST00000866944.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "A",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5314,
"cdna_start": 3905,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3543,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000926015.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3543G>A",
"hgvs_p": "p.Ala1181Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596074.1",
"strand": false,
"transcript": "ENST00000926015.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "A",
"aa_start": 1181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 3692,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3543,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000944647.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3543G>A",
"hgvs_p": "p.Ala1181Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614706.1",
"strand": false,
"transcript": "ENST00000944647.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "A",
"aa_start": 1180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 3877,
"cds_end": null,
"cds_length": 4011,
"cds_start": 3540,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000866946.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3540G>A",
"hgvs_p": "p.Ala1180Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537005.1",
"strand": false,
"transcript": "ENST00000866946.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1333,
"aa_ref": "A",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4618,
"cdna_start": 3867,
"cds_end": null,
"cds_length": 4002,
"cds_start": 3531,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000926018.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3531G>A",
"hgvs_p": "p.Ala1177Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596077.1",
"strand": false,
"transcript": "ENST00000926018.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "A",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4635,
"cdna_start": 3872,
"cds_end": null,
"cds_length": 3990,
"cds_start": 3519,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000866939.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3519G>A",
"hgvs_p": "p.Ala1173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536998.1",
"strand": false,
"transcript": "ENST00000866939.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "A",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4555,
"cdna_start": 3812,
"cds_end": null,
"cds_length": 3990,
"cds_start": 3519,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000866940.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3519G>A",
"hgvs_p": "p.Ala1173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536999.1",
"strand": false,
"transcript": "ENST00000866940.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "A",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4516,
"cdna_start": 3914,
"cds_end": null,
"cds_length": 3990,
"cds_start": 3519,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000926023.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3519G>A",
"hgvs_p": "p.Ala1173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596082.1",
"strand": false,
"transcript": "ENST00000926023.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "A",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 3851,
"cds_end": null,
"cds_length": 3990,
"cds_start": 3519,
"consequences": [
"synonymous_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000926024.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3519G>A",
"hgvs_p": "p.Ala1173Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596083.1",
"strand": false,
"transcript": "ENST00000926024.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1308,
"aa_ref": "A",
"aa_start": 1152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 3927,
"cds_start": 3456,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000866945.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3456G>A",
"hgvs_p": "p.Ala1152Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537004.1",
"strand": false,
"transcript": "ENST00000866945.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "A",
"aa_start": 1149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": 3805,
"cds_end": null,
"cds_length": 3918,
"cds_start": 3447,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000926016.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3447G>A",
"hgvs_p": "p.Ala1149Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596075.1",
"strand": false,
"transcript": "ENST00000926016.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "A",
"aa_start": 916,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": 3009,
"cds_end": null,
"cds_length": 3219,
"cds_start": 2748,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000926026.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.2748G>A",
"hgvs_p": "p.Ala916Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596085.1",
"strand": false,
"transcript": "ENST00000926026.1",
"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": 1261,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000511778.5",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "n.770G>A",
"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": "ENST00000511778.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs372814914",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000021696438,
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"gnomad_exomes_ac": 32,
"gnomad_exomes_af": 0.0000219028,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197148,
"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": "Likely benign",
"phenotype_combined": "DROSHA-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": -3.061,
"pos": 31410759,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_013235.5"
}
]
}