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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: 11-5226774-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=5226774&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 5226774,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000335295.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBB",
"gene_hgnc_id": 4827,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Gln40*",
"transcript": "NM_000518.5",
"protein_id": "NP_000509.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 147,
"cds_start": 118,
"cds_end": null,
"cds_length": 444,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 628,
"mane_select": "ENST00000335295.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBB",
"gene_hgnc_id": 4827,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Gln40*",
"transcript": "ENST00000335295.4",
"protein_id": "ENSP00000333994.3",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 147,
"cds_start": 118,
"cds_end": null,
"cds_length": 444,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 628,
"mane_select": "NM_000518.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBB",
"gene_hgnc_id": 4827,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Gln40*",
"transcript": "ENST00000485743.1",
"protein_id": "ENSP00000496200.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 111,
"cds_start": 118,
"cds_end": null,
"cds_length": 336,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBB",
"gene_hgnc_id": 4827,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Gln40*",
"transcript": "ENST00000647020.1",
"protein_id": "ENSP00000494175.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 147,
"cds_start": 118,
"cds_end": null,
"cds_length": 444,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBB",
"gene_hgnc_id": 4827,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Gln40*",
"transcript": "ENST00000380315.2",
"protein_id": "ENSP00000369671.2",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 89,
"cds_start": 118,
"cds_end": null,
"cds_length": 272,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 502,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBB",
"gene_hgnc_id": 4827,
"hgvs_c": "n.50C>T",
"hgvs_p": null,
"transcript": "ENST00000475226.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 319,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBB",
"gene_hgnc_id": 4827,
"hgvs_c": "n.102C>T",
"hgvs_p": null,
"transcript": "ENST00000633227.1",
"protein_id": "ENSP00000488004.1",
"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": 609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298932",
"gene_hgnc_id": null,
"hgvs_c": "n.265+1046G>A",
"hgvs_p": null,
"transcript": "ENST00000759072.1",
"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": 336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HBB",
"gene_hgnc_id": 4827,
"dbsnp": "rs11549407",
"frequency_reference_population": 0.00015736012,
"hom_count_reference_population": 0,
"allele_count_reference_population": 254,
"gnomad_exomes_af": 0.00014502,
"gnomad_genomes_af": 0.00027584,
"gnomad_exomes_ac": 212,
"gnomad_genomes_ac": 42,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.638,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000335295.4",
"gene_symbol": "HBB",
"hgnc_id": 4827,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Gln40*"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000759072.1",
"gene_symbol": "ENSG00000298932",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.265+1046G>A",
"hgvs_p": null
}
],
"clinvar_disease": " susceptibility to,8 conditions,Beta zero thalassemia,Beta-thalassemia HBB/LCRB,HBB-related disorder,Hb SS disease,Heinz body anemia,Inborn genetic diseases,Malaria,alpha Thalassemia,beta Thalassemia,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:34 O:1",
"phenotype_combined": "Beta zero thalassemia|alpha Thalassemia|beta Thalassemia|not provided|Hb SS disease|Inborn genetic diseases|8 conditions|Heinz body anemia|Malaria, susceptibility to|Beta-thalassemia HBB/LCRB|HBB-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}