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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: 11-18269752-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18269752&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18269752,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000356524.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "NM_199161.5",
"protein_id": "NP_954630.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 122,
"cds_start": 266,
"cds_end": null,
"cds_length": 369,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 518,
"mane_select": "ENST00000356524.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000356524.9",
"protein_id": "ENSP00000348918.4",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 122,
"cds_start": 266,
"cds_end": null,
"cds_length": 369,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 518,
"mane_select": "NM_199161.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000532858.5",
"protein_id": "ENSP00000436866.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 122,
"cds_start": 266,
"cds_end": null,
"cds_length": 369,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "NM_000331.6",
"protein_id": "NP_000322.3",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 122,
"cds_start": 266,
"cds_end": null,
"cds_length": 369,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "NM_001178006.3",
"protein_id": "NP_001171477.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 122,
"cds_start": 266,
"cds_end": null,
"cds_length": 369,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000405158.2",
"protein_id": "ENSP00000384906.2",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 122,
"cds_start": 266,
"cds_end": null,
"cds_length": 369,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303304",
"gene_hgnc_id": null,
"hgvs_c": "n.226T>C",
"hgvs_p": null,
"transcript": "ENST00000793468.1",
"protein_id": null,
"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": 233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.*63A>G",
"hgvs_p": null,
"transcript": "ENST00000649195.1",
"protein_id": "ENSP00000497498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": -4,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"hgvs_c": "c.*415A>G",
"hgvs_p": null,
"transcript": "ENST00000689650.1",
"protein_id": "ENSP00000509190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": -4,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SAA1",
"gene_hgnc_id": 10513,
"dbsnp": "rs2229338",
"frequency_reference_population": 0.0000013682624,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136826,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07681623101234436,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.0759,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.431,
"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_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000356524.9",
"gene_symbol": "SAA1",
"hgnc_id": 10513,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000793468.1",
"gene_symbol": "ENSG00000303304",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.226T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}