← 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: 20-61910584-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=61910584&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 61910584,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000614565.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH4",
"gene_hgnc_id": 1763,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Glu451Lys",
"transcript": "NM_001794.5",
"protein_id": "NP_001785.2",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 916,
"cds_start": 1351,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": "ENST00000614565.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH4",
"gene_hgnc_id": 1763,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Glu451Lys",
"transcript": "ENST00000614565.5",
"protein_id": "ENSP00000484928.1",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 916,
"cds_start": 1351,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": "NM_001794.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH4",
"gene_hgnc_id": 1763,
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Glu414Lys",
"transcript": "NM_001252338.2",
"protein_id": "NP_001239267.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 879,
"cds_start": 1240,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 6328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH4",
"gene_hgnc_id": 1763,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Glu377Lys",
"transcript": "NM_001252339.3",
"protein_id": "NP_001239268.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 842,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 6485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH4",
"gene_hgnc_id": 1763,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Glu377Lys",
"transcript": "ENST00000543233.2",
"protein_id": "ENSP00000443301.1",
"transcript_support_level": 2,
"aa_start": 377,
"aa_end": null,
"aa_length": 842,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH4",
"gene_hgnc_id": 1763,
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Glu357Lys",
"transcript": "ENST00000611855.4",
"protein_id": "ENSP00000480844.1",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 822,
"cds_start": 1069,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH4",
"gene_hgnc_id": 1763,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Glu377Lys",
"transcript": "XM_047439812.1",
"protein_id": "XP_047295768.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 842,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 6458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH4",
"gene_hgnc_id": 1763,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Glu377Lys",
"transcript": "XM_047439813.1",
"protein_id": "XP_047295769.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 842,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDH4",
"gene_hgnc_id": 1763,
"dbsnp": "rs139577432",
"frequency_reference_population": 0.0002324166,
"hom_count_reference_population": 1,
"allele_count_reference_population": 375,
"gnomad_exomes_af": 0.000231976,
"gnomad_genomes_af": 0.000236649,
"gnomad_exomes_ac": 339,
"gnomad_genomes_ac": 36,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5880531668663025,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.35,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.539,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000614565.5",
"gene_symbol": "CDH4",
"hgnc_id": 1763,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Glu451Lys"
}
],
"clinvar_disease": "Simplified gyral pattern",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Simplified gyral pattern",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}