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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-31405728-TAAATA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=31405728&ref=TAAATA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP6_Moderate",
"BS2"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "DROSHA",
"hgnc_id": 17904,
"hgvs_c": "c.3948-10_3948-6delTATTT",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_013235.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 279,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "Likely benign",
"clinvar_disease": "DROSHA-related disorder,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1374,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5416,
"cdna_start": null,
"cds_end": null,
"cds_length": 4125,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382508.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3948-10_3948-6delTATTT",
"hgvs_p": null,
"intron_rank": 34,
"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": null,
"aa_end": null,
"aa_length": 1374,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5416,
"cdna_start": null,
"cds_end": null,
"cds_length": 4125,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000344624.8",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3948-10_3948-6delTATTT",
"hgvs_p": null,
"intron_rank": 34,
"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": null,
"aa_end": null,
"aa_length": 1374,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": null,
"cds_end": null,
"cds_length": 4125,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000511367.6",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3948-10_3948-6delTATTT",
"hgvs_p": null,
"intron_rank": 33,
"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": null,
"aa_end": null,
"aa_length": 1337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": null,
"cds_end": null,
"cds_length": 4014,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513349.5",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3837-10_3837-6delTATTT",
"hgvs_p": null,
"intron_rank": 33,
"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": null,
"aa_end": null,
"aa_length": 1388,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4544,
"cdna_start": null,
"cds_end": null,
"cds_length": 4167,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866948.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3990-10_3990-6delTATTT",
"hgvs_p": null,
"intron_rank": 34,
"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": null,
"aa_end": null,
"aa_length": 1388,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5474,
"cdna_start": null,
"cds_end": null,
"cds_length": 4167,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926014.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3990-10_3990-6delTATTT",
"hgvs_p": null,
"intron_rank": 35,
"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": null,
"aa_end": null,
"aa_length": 1380,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": null,
"cds_end": null,
"cds_length": 4143,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926025.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3966-10_3966-6delTATTT",
"hgvs_p": null,
"intron_rank": 34,
"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": null,
"aa_end": null,
"aa_length": 1374,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5340,
"cdna_start": null,
"cds_end": null,
"cds_length": 4125,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013235.5",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3948-10_3948-6delTATTT",
"hgvs_p": null,
"intron_rank": 33,
"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": null,
"aa_end": null,
"aa_length": 1374,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5404,
"cdna_start": null,
"cds_end": null,
"cds_length": 4125,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866937.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3948-10_3948-6delTATTT",
"hgvs_p": null,
"intron_rank": 34,
"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": null,
"aa_end": null,
"aa_length": 1374,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4667,
"cdna_start": null,
"cds_end": null,
"cds_length": 4125,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866943.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3948-10_3948-6delTATTT",
"hgvs_p": null,
"intron_rank": 34,
"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": null,
"aa_end": null,
"aa_length": 1374,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5725,
"cdna_start": null,
"cds_end": null,
"cds_length": 4125,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926013.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3948-10_3948-6delTATTT",
"hgvs_p": null,
"intron_rank": 34,
"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": null,
"aa_end": null,
"aa_length": 1374,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": null,
"cds_end": null,
"cds_length": 4125,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926021.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3948-10_3948-6delTATTT",
"hgvs_p": null,
"intron_rank": 33,
"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": null,
"aa_end": null,
"aa_length": 1374,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4462,
"cdna_start": null,
"cds_end": null,
"cds_length": 4125,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926027.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3948-10_3948-6delTATTT",
"hgvs_p": null,
"intron_rank": 33,
"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": null,
"aa_end": null,
"aa_length": 1373,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": null,
"cds_end": null,
"cds_length": 4122,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866947.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3945-10_3945-6delTATTT",
"hgvs_p": null,
"intron_rank": 33,
"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": null,
"aa_end": null,
"aa_length": 1366,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": null,
"cds_end": null,
"cds_length": 4101,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866936.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3924-10_3924-6delTATTT",
"hgvs_p": null,
"intron_rank": 34,
"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": null,
"aa_end": null,
"aa_length": 1366,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": null,
"cds_end": null,
"cds_length": 4101,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866941.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3924-10_3924-6delTATTT",
"hgvs_p": null,
"intron_rank": 33,
"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": null,
"aa_end": null,
"aa_length": 1366,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": null,
"cds_end": null,
"cds_length": 4101,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926022.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3924-10_3924-6delTATTT",
"hgvs_p": null,
"intron_rank": 33,
"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": null,
"aa_end": null,
"aa_length": 1365,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": null,
"cds_end": null,
"cds_length": 4098,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926019.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3921-10_3921-6delTATTT",
"hgvs_p": null,
"intron_rank": 34,
"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": null,
"aa_end": null,
"aa_length": 1351,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4668,
"cdna_start": null,
"cds_end": null,
"cds_length": 4056,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926020.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3879-10_3879-6delTATTT",
"hgvs_p": null,
"intron_rank": 34,
"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": null,
"aa_end": null,
"aa_length": 1345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4579,
"cdna_start": null,
"cds_end": null,
"cds_length": 4038,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926017.1",
"gene_hgnc_id": 17904,
"gene_symbol": "DROSHA",
"hgvs_c": "c.3861-10_3861-6delTATTT",
"hgvs_p": null,
"intron_rank": 32,
"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": null,
"aa_end": null,
"aa_length": 1337,
"aa_ref": null,
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