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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: 3-42691889-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42691889&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 42691889,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152393.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL40",
"gene_hgnc_id": 30372,
"hgvs_c": "c.1762G>C",
"hgvs_p": "p.Glu588Gln",
"transcript": "NM_152393.4",
"protein_id": "NP_689606.2",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 621,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": "ENST00000287777.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152393.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL40",
"gene_hgnc_id": 30372,
"hgvs_c": "c.1762G>C",
"hgvs_p": "p.Glu588Gln",
"transcript": "ENST00000287777.5",
"protein_id": "ENSP00000287777.4",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 621,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": "NM_152393.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287777.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL40",
"gene_hgnc_id": 30372,
"hgvs_c": "c.1747G>C",
"hgvs_p": "p.Glu583Gln",
"transcript": "ENST00000942348.1",
"protein_id": "ENSP00000612407.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 616,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942348.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL40",
"gene_hgnc_id": 30372,
"hgvs_c": "c.1741G>C",
"hgvs_p": "p.Glu581Gln",
"transcript": "ENST00000942349.1",
"protein_id": "ENSP00000612408.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 614,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942349.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL40",
"gene_hgnc_id": 30372,
"hgvs_c": "c.1654G>C",
"hgvs_p": "p.Glu552Gln",
"transcript": "ENST00000942345.1",
"protein_id": "ENSP00000612404.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 585,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942345.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL40",
"gene_hgnc_id": 30372,
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Glu526Gln",
"transcript": "ENST00000942347.1",
"protein_id": "ENSP00000612406.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 559,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942347.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL40",
"gene_hgnc_id": 30372,
"hgvs_c": "c.1468G>C",
"hgvs_p": "p.Glu490Gln",
"transcript": "ENST00000942346.1",
"protein_id": "ENSP00000612405.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 523,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942346.1"
}
],
"gene_symbol": "KLHL40",
"gene_hgnc_id": 30372,
"dbsnp": "rs201856772",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3556010127067566,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.446,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1267,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.408,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152393.4",
"gene_symbol": "KLHL40",
"hgnc_id": 30372,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1762G>C",
"hgvs_p": "p.Glu588Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}