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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: 19-53511584-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53511584&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000293186",
"hgnc_id": null,
"hgvs_c": "n.1162-379A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000601966.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF331",
"hgnc_id": 15489,
"hgvs_c": "c.-1104-379A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "XM_047439049.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 56544,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.93,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5675,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439049.1",
"gene_hgnc_id": 15489,
"gene_symbol": "ZNF331",
"hgvs_c": "c.-1104-379A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295005.1",
"strand": true,
"transcript": "XM_047439049.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5785,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439051.1",
"gene_hgnc_id": 15489,
"gene_symbol": "ZNF331",
"hgvs_c": "c.-1875-379A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295007.1",
"strand": true,
"transcript": "XM_047439051.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6216,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439053.1",
"gene_hgnc_id": 15489,
"gene_symbol": "ZNF331",
"hgvs_c": "c.-2306-379A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295009.1",
"strand": true,
"transcript": "XM_047439053.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5691,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439055.1",
"gene_hgnc_id": 15489,
"gene_symbol": "ZNF331",
"hgvs_c": "c.-1781-379A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295011.1",
"strand": true,
"transcript": "XM_047439055.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5773,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439057.1",
"gene_hgnc_id": 15489,
"gene_symbol": "ZNF331",
"hgvs_c": "c.-1719-379A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295013.1",
"strand": true,
"transcript": "XM_047439057.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4999,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439058.1",
"gene_hgnc_id": 15489,
"gene_symbol": "ZNF331",
"hgvs_c": "c.-1009-379A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295014.1",
"strand": true,
"transcript": "XM_047439058.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5111,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439059.1",
"gene_hgnc_id": 15489,
"gene_symbol": "ZNF331",
"hgvs_c": "c.-1183-379A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295015.1",
"strand": true,
"transcript": "XM_047439059.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4999,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439060.1",
"gene_hgnc_id": 15489,
"gene_symbol": "ZNF331",
"hgvs_c": "c.-1071-379A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295016.1",
"strand": true,
"transcript": "XM_047439060.1",
"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": 1304,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597004.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293186",
"hgvs_c": "n.279-379A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000597004.2",
"transcript_support_level": 4
},
{
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"aa_ref": null,
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 2538,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601966.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293186",
"hgvs_c": "n.1162-379A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000601966.2",
"transcript_support_level": 3
},
{
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"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1756,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
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"exon_rank": null,
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"feature": "ENST00000766785.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293186",
"hgvs_c": "n.1147-379A>G",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000766785.1",
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},
{
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"biotype": "pseudogene",
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000766786.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293186",
"hgvs_c": "n.349-379A>G",
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"strand": true,
"transcript": "ENST00000766786.1",
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},
{
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],
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"mane_plus": null,
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"strand": true,
"transcript": "ENST00000766787.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000766788.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293186",
"hgvs_c": "n.334-379A>G",
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"mane_plus": null,
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},
{
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],
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"feature": "ENST00000766789.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293186",
"hgvs_c": "n.185-379A>G",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
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"transcript": "ENST00000766789.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000766790.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293186",
"hgvs_c": "n.292-379A>G",
"hgvs_p": null,
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"mane_plus": null,
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"transcript": "ENST00000766790.1",
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},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000766791.1",
"gene_hgnc_id": null,
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"hgvs_c": "n.844-379A>G",
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},
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],
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},
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],
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"feature": "ENST00000766793.1",
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},
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"consequences": [
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],
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"feature": "ENST00000766794.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293186",
"hgvs_c": "n.443-379A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000766794.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000766795.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293186",
"hgvs_c": "n.427-379A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000766795.1",
"transcript_support_level": null
},
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