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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: 2-38071052-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=38071052&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP1B1",
"hgnc_id": 2597,
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_000104.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_score": 5,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9817,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.46,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.910724401473999,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 543,
"aa_ref": "W",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5218,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1302,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000104.4",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000610745.5",
"protein_coding": true,
"protein_id": "NP_000095.2",
"strand": false,
"transcript": "NM_000104.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 543,
"aa_ref": "W",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5218,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1302,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000610745.5",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000104.4",
"protein_coding": true,
"protein_id": "ENSP00000478561.1",
"strand": false,
"transcript": "ENST00000610745.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 543,
"aa_ref": "W",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5021,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1302,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000490576.2",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478839.2",
"strand": false,
"transcript": "ENST00000490576.2",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 543,
"aa_ref": "W",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1302,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000614273.1",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483678.1",
"strand": false,
"transcript": "ENST00000614273.1",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 543,
"aa_ref": "W",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5248,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1302,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000714520.1",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519767.1",
"strand": false,
"transcript": "ENST00000714520.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 543,
"aa_ref": "W",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6653,
"cdna_start": 3212,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1302,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000860003.1",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530062.1",
"strand": false,
"transcript": "ENST00000860003.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 543,
"aa_ref": "W",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 1581,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1302,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948951.1",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619010.1",
"strand": false,
"transcript": "ENST00000948951.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 543,
"aa_ref": "W",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4174,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1302,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948952.1",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619011.1",
"strand": false,
"transcript": "ENST00000948952.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 543,
"aa_ref": "W",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4507,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1302,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948953.1",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619012.1",
"strand": false,
"transcript": "ENST00000948953.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 543,
"aa_ref": "W",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1302,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948954.1",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Trp434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619013.1",
"strand": false,
"transcript": "ENST00000948954.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 172,
"aa_ref": "W",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 493,
"cds_end": null,
"cds_length": 519,
"cds_start": 189,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000494864.1",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "c.189G>T",
"hgvs_p": "p.Trp63Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479876.1",
"strand": false,
"transcript": "ENST00000494864.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000492443.1",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "n.680G>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": "ENST00000492443.1",
"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": 573,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000613082.1",
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"hgvs_c": "n.*124G>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": "ENST00000613082.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs893198212",
"effect": "missense_variant",
"frequency_reference_population": 6.841405e-7,
"gene_hgnc_id": 2597,
"gene_symbol": "CYP1B1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84141e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.798,
"pos": 38071052,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.756,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000104.4"
}
]
}