← 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: 11-5254429-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=5254429&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 5254429,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000336906.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBG2",
"gene_hgnc_id": 4832,
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Lys60Glu",
"transcript": "NM_000184.3",
"protein_id": "NP_000175.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 147,
"cds_start": 178,
"cds_end": null,
"cds_length": 444,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 586,
"mane_select": "ENST00000336906.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBG2",
"gene_hgnc_id": 4832,
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Lys60Glu",
"transcript": "ENST00000336906.6",
"protein_id": "ENSP00000338082.4",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 147,
"cds_start": 178,
"cds_end": null,
"cds_length": 444,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 586,
"mane_select": "NM_000184.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284931",
"gene_hgnc_id": null,
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Lys60Glu",
"transcript": "ENST00000642908.1",
"protein_id": "ENSP00000495346.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 147,
"cds_start": 178,
"cds_end": null,
"cds_length": 444,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000239920",
"gene_hgnc_id": null,
"hgvs_c": "n.*1481A>G",
"hgvs_p": null,
"transcript": "ENST00000380259.7",
"protein_id": "ENSP00000369609.3",
"transcript_support_level": 5,
"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": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000239920",
"gene_hgnc_id": null,
"hgvs_c": "n.*1481A>G",
"hgvs_p": null,
"transcript": "ENST00000380259.7",
"protein_id": "ENSP00000369609.3",
"transcript_support_level": 5,
"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": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284931",
"gene_hgnc_id": null,
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Lys60Glu",
"transcript": "ENST00000647543.1",
"protein_id": "ENSP00000496470.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 168,
"cds_start": 178,
"cds_end": null,
"cds_length": 507,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBG2",
"gene_hgnc_id": 4832,
"hgvs_c": "c.13A>G",
"hgvs_p": "p.Lys5Glu",
"transcript": "ENST00000380252.6",
"protein_id": "ENSP00000369602.2",
"transcript_support_level": 3,
"aa_start": 5,
"aa_end": null,
"aa_length": 92,
"cds_start": 13,
"cds_end": null,
"cds_length": 279,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBG2",
"gene_hgnc_id": 4832,
"hgvs_c": "c.*47A>G",
"hgvs_p": null,
"transcript": "ENST00000444587.1",
"protein_id": "ENSP00000488218.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": -4,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HBG2",
"gene_hgnc_id": 4832,
"dbsnp": "rs28933078",
"frequency_reference_population": 0.0000043366153,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342023,
"gnomad_genomes_af": 0.0000131342,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7991539239883423,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.512,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3377,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.753,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3,BP6_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP3",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000336906.6",
"gene_symbol": "HBG2",
"hgnc_id": 4832,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Lys60Glu"
},
{
"score": 3,
"benign_score": 2,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP3",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642908.1",
"gene_symbol": "ENSG00000284931",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Lys60Glu"
},
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000380259.7",
"gene_symbol": "ENSG00000239920",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1481A>G",
"hgvs_p": null
}
],
"clinvar_disease": "HEMOGLOBIN F (EMIRATES),not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "HEMOGLOBIN F (EMIRATES)|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}