← 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: 2-26453335-CAGGCGAGCATGGAGA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26453335&ref=CAGGCGAGCATGGAGA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26453335,
"ref": "CAGGCGAGCATGGAGA",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000288710.7",
"consequences": [
{
"aa_ref": "KASME",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "c.1720_1734delAAGGCGAGCATGGAG",
"hgvs_p": "p.Lys574_Glu578del",
"transcript": "NM_145038.5",
"protein_id": "NP_659475.2",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 740,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "ENST00000288710.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KASME",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "c.1720_1734delAAGGCGAGCATGGAG",
"hgvs_p": "p.Lys574_Glu578del",
"transcript": "ENST00000288710.7",
"protein_id": "ENSP00000288710.2",
"transcript_support_level": 2,
"aa_start": 574,
"aa_end": null,
"aa_length": 740,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "NM_145038.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KASME",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "c.700_714delAAGGCGAGCATGGAG",
"hgvs_p": "p.Lys234_Glu238del",
"transcript": "XM_047446339.1",
"protein_id": "XP_047302295.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 400,
"cds_start": 700,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "n.450_464delAAGGCGAGCATGGAG",
"hgvs_p": null,
"transcript": "ENST00000439066.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "n.*683_*697delAAGGCGAGCATGGAG",
"hgvs_p": null,
"transcript": "ENST00000649059.1",
"protein_id": "ENSP00000497543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"hgvs_c": "n.*683_*697delAAGGCGAGCATGGAG",
"hgvs_p": null,
"transcript": "ENST00000649059.1",
"protein_id": "ENSP00000497543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DRC1",
"gene_hgnc_id": 24245,
"dbsnp": "rs878855222",
"frequency_reference_population": 0.00031224327,
"hom_count_reference_population": 3,
"allele_count_reference_population": 504,
"gnomad_exomes_af": 0.000160758,
"gnomad_genomes_af": 0.00176625,
"gnomad_exomes_ac": 235,
"gnomad_genomes_ac": 269,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"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": 0.571,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "PM4,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000288710.7",
"gene_symbol": "DRC1",
"hgnc_id": 24245,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1720_1734delAAGGCGAGCATGGAG",
"hgvs_p": "p.Lys574_Glu578del"
}
],
"clinvar_disease": "Primary ciliary dyskinesia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Primary ciliary dyskinesia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}