← 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: 2-27239442-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27239442&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27239442,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000264705.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.5365C>A",
"hgvs_p": "p.Arg1789Arg",
"transcript": "NM_004341.5",
"protein_id": "NP_004332.2",
"transcript_support_level": null,
"aa_start": 1789,
"aa_end": null,
"aa_length": 2225,
"cds_start": 5365,
"cds_end": null,
"cds_length": 6678,
"cdna_start": 5548,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": "ENST00000264705.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.5365C>A",
"hgvs_p": "p.Arg1789Arg",
"transcript": "ENST00000264705.9",
"protein_id": "ENSP00000264705.3",
"transcript_support_level": 1,
"aa_start": 1789,
"aa_end": null,
"aa_length": 2225,
"cds_start": 5365,
"cds_end": null,
"cds_length": 6678,
"cdna_start": 5548,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": "NM_004341.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.5176C>A",
"hgvs_p": "p.Arg1726Arg",
"transcript": "ENST00000403525.5",
"protein_id": "ENSP00000384510.1",
"transcript_support_level": 1,
"aa_start": 1726,
"aa_end": null,
"aa_length": 2162,
"cds_start": 5176,
"cds_end": null,
"cds_length": 6489,
"cdna_start": 5320,
"cdna_end": null,
"cdna_length": 6900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.5176C>A",
"hgvs_p": "p.Arg1726Arg",
"transcript": "NM_001306079.2",
"protein_id": "NP_001293008.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 2162,
"cds_start": 5176,
"cds_end": null,
"cds_length": 6489,
"cdna_start": 5359,
"cdna_end": null,
"cdna_length": 7097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "ENST00000456311.1",
"protein_id": "ENSP00000388740.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 277,
"cds_start": 226,
"cds_end": null,
"cds_length": 836,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.5365C>A",
"hgvs_p": "p.Arg1789Arg",
"transcript": "XM_047445803.1",
"protein_id": "XP_047301759.1",
"transcript_support_level": null,
"aa_start": 1789,
"aa_end": null,
"aa_length": 2242,
"cds_start": 5365,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 5548,
"cdna_end": null,
"cdna_length": 7337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "c.5176C>A",
"hgvs_p": "p.Arg1726Arg",
"transcript": "XM_006712101.4",
"protein_id": "XP_006712164.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5176,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5359,
"cdna_end": null,
"cdna_length": 7148,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "n.193C>A",
"hgvs_p": null,
"transcript": "ENST00000487239.5",
"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": 748,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"hgvs_c": "n.112C>A",
"hgvs_p": null,
"transcript": "ENST00000491461.1",
"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": 366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAD",
"gene_hgnc_id": 1424,
"dbsnp": "rs62130681",
"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": 0.24699999392032623,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.247,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.086,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4,BP7",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264705.9",
"gene_symbol": "CAD",
"hgnc_id": 1424,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5365C>A",
"hgvs_p": "p.Arg1789Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}