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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: 18-65809969-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=65809969&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 65809969,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004361.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH7",
"gene_hgnc_id": 1766,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"transcript": "NM_004361.5",
"protein_id": "NP_004352.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 785,
"cds_start": 476,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 12136,
"mane_select": "ENST00000397968.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH7",
"gene_hgnc_id": 1766,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"transcript": "ENST00000397968.4",
"protein_id": "ENSP00000381058.2",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 785,
"cds_start": 476,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 12136,
"mane_select": "NM_004361.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH7",
"gene_hgnc_id": 1766,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"transcript": "ENST00000323011.7",
"protein_id": "ENSP00000319166.3",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 785,
"cds_start": 476,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH7",
"gene_hgnc_id": 1766,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"transcript": "ENST00000536984.6",
"protein_id": "ENSP00000443030.2",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 630,
"cds_start": 476,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH7",
"gene_hgnc_id": 1766,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"transcript": "NM_001362438.2",
"protein_id": "NP_001349367.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 785,
"cds_start": 476,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 12938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH7",
"gene_hgnc_id": 1766,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"transcript": "NM_033646.4",
"protein_id": "NP_387450.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 785,
"cds_start": 476,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 12126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH7",
"gene_hgnc_id": 1766,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg",
"transcript": "NM_001317214.3",
"protein_id": "NP_001304143.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 630,
"cds_start": 476,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDH7",
"gene_hgnc_id": 1766,
"dbsnp": "rs148563266",
"frequency_reference_population": 6.8508353e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85084e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36821019649505615,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.203,
"revel_prediction": "Benign",
"alphamissense_score": 0.0745,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.819,
"phylop100way_prediction": "Benign",
"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": 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_004361.5",
"gene_symbol": "CDH7",
"hgnc_id": 1766,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Thr159Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}