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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: 16-64948049-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=64948049&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 64948049,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001797.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH11",
"gene_hgnc_id": 1750,
"hgvs_c": "c.1945A>G",
"hgvs_p": "p.Ile649Val",
"transcript": "NM_001797.4",
"protein_id": "NP_001788.2",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 796,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 6722,
"mane_select": "ENST00000268603.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001797.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH11",
"gene_hgnc_id": 1750,
"hgvs_c": "c.1945A>G",
"hgvs_p": "p.Ile649Val",
"transcript": "ENST00000268603.9",
"protein_id": "ENSP00000268603.4",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 796,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 6722,
"mane_select": "NM_001797.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268603.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH11",
"gene_hgnc_id": 1750,
"hgvs_c": "c.*42A>G",
"hgvs_p": null,
"transcript": "ENST00000394156.7",
"protein_id": "ENSP00000377711.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394156.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH11",
"gene_hgnc_id": 1750,
"hgvs_c": "c.1567A>G",
"hgvs_p": "p.Ile523Val",
"transcript": "NM_001330576.2",
"protein_id": "NP_001317505.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 670,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 6322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330576.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH11",
"gene_hgnc_id": 1750,
"hgvs_c": "c.1567A>G",
"hgvs_p": "p.Ile523Val",
"transcript": "ENST00000566827.5",
"protein_id": "ENSP00000457812.1",
"transcript_support_level": 2,
"aa_start": 523,
"aa_end": null,
"aa_length": 670,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566827.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH11",
"gene_hgnc_id": 1750,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Ile276Val",
"transcript": "ENST00000871590.1",
"protein_id": "ENSP00000541649.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 423,
"cds_start": 826,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871590.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH11",
"gene_hgnc_id": 1750,
"hgvs_c": "c.1567A>G",
"hgvs_p": "p.Ile523Val",
"transcript": "XM_047433486.1",
"protein_id": "XP_047289442.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 670,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 6209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433486.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH11",
"gene_hgnc_id": 1750,
"hgvs_c": "c.*42A>G",
"hgvs_p": null,
"transcript": "NM_001308392.2",
"protein_id": "NP_001295321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308392.2"
}
],
"gene_symbol": "CDH11",
"gene_hgnc_id": 1750,
"dbsnp": "rs201059793",
"frequency_reference_population": 0.0003147495,
"hom_count_reference_population": 0,
"allele_count_reference_population": 508,
"gnomad_exomes_af": 0.000322873,
"gnomad_genomes_af": 0.000236674,
"gnomad_exomes_ac": 472,
"gnomad_genomes_ac": 36,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16718709468841553,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.415,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3062,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.212,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_001797.4",
"gene_symbol": "CDH11",
"hgnc_id": 1750,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1945A>G",
"hgvs_p": "p.Ile649Val"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}