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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: 10-16937711-GA-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=16937711&ref=GA&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 16937711,
"ref": "GA",
"alt": "TT",
"effect": "missense_variant",
"transcript": "ENST00000377833.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.5806_5807delTCinsAA",
"hgvs_p": "p.Ser1936Asn",
"transcript": "NM_001081.4",
"protein_id": "NP_001072.2",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 3623,
"cds_start": 5806,
"cds_end": null,
"cds_length": 10872,
"cdna_start": 5853,
"cdna_end": null,
"cdna_length": 11927,
"mane_select": "ENST00000377833.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.5806_5807delTCinsAA",
"hgvs_p": "p.Ser1936Asn",
"transcript": "ENST00000377833.10",
"protein_id": "ENSP00000367064.4",
"transcript_support_level": 1,
"aa_start": 1936,
"aa_end": null,
"aa_length": 3623,
"cds_start": 5806,
"cds_end": null,
"cds_length": 10872,
"cdna_start": 5853,
"cdna_end": null,
"cdna_length": 11927,
"mane_select": "NM_001081.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.5806_5807delTCinsAA",
"hgvs_p": "p.Ser1936Asn",
"transcript": "XM_011519708.3",
"protein_id": "XP_011518010.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2867,
"cds_start": 5806,
"cds_end": null,
"cds_length": 8604,
"cdna_start": 5853,
"cdna_end": null,
"cdna_length": 8890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.1792_1793delTCinsAA",
"hgvs_p": "p.Ser598Asn",
"transcript": "XM_011519709.3",
"protein_id": "XP_011518011.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 2285,
"cds_start": 1792,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 7953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.1768_1769delTCinsAA",
"hgvs_p": "p.Ser590Asn",
"transcript": "XM_011519710.3",
"protein_id": "XP_011518012.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 2277,
"cds_start": 1768,
"cds_end": null,
"cds_length": 6834,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 7932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.1648_1649delTCinsAA",
"hgvs_p": "p.Ser550Asn",
"transcript": "XM_011519711.4",
"protein_id": "XP_011518013.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 2237,
"cds_start": 1648,
"cds_end": null,
"cds_length": 6714,
"cdna_start": 1837,
"cdna_end": null,
"cdna_length": 7911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"dbsnp": "rs1554796668",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.509,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000377833.10",
"gene_symbol": "CUBN",
"hgnc_id": 2548,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5806_5807delTCinsAA",
"hgvs_p": "p.Ser1936Asn"
}
],
"clinvar_disease": "Imerslund-Grasbeck syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Imerslund-Grasbeck syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}