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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: 9-133205932-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133205932&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133205932,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000372034.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Val167Ile",
"transcript": "NM_014581.4",
"protein_id": "NP_055396.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 170,
"cds_start": 499,
"cds_end": null,
"cds_length": 513,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 698,
"mane_select": "ENST00000372034.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Val167Ile",
"transcript": "ENST00000372034.8",
"protein_id": "ENSP00000361104.3",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 170,
"cds_start": 499,
"cds_end": null,
"cds_length": 513,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 698,
"mane_select": "NM_014581.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Val167Ile",
"transcript": "ENST00000618116.4",
"protein_id": "ENSP00000484615.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 170,
"cds_start": 499,
"cds_end": null,
"cds_length": 513,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 961,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "n.407G>A",
"hgvs_p": null,
"transcript": "ENST00000461961.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 557,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "n.*107G>A",
"hgvs_p": null,
"transcript": "ENST00000473737.5",
"protein_id": "ENSP00000434927.1",
"transcript_support_level": 1,
"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": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "n.*107G>A",
"hgvs_p": null,
"transcript": "ENST00000473737.5",
"protein_id": "ENSP00000434927.1",
"transcript_support_level": 1,
"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": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Val167Ile",
"transcript": "NM_001288987.2",
"protein_id": "NP_001275916.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 170,
"cds_start": 499,
"cds_end": null,
"cds_length": 513,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Ile",
"transcript": "XM_017014654.2",
"protein_id": "XP_016870143.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 222,
"cds_start": 655,
"cds_end": null,
"cds_length": 669,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Ile",
"transcript": "XM_047423295.1",
"protein_id": "XP_047279251.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 222,
"cds_start": 655,
"cds_end": null,
"cds_length": 669,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Val134Ile",
"transcript": "XM_006717086.4",
"protein_id": "XP_006717149.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 137,
"cds_start": 400,
"cds_end": null,
"cds_length": 414,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 773,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "n.656G>A",
"hgvs_p": null,
"transcript": "NR_110242.2",
"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": 804,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"hgvs_c": "n.416G>A",
"hgvs_p": null,
"transcript": "NR_110243.2",
"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": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OBP2B",
"gene_hgnc_id": 23381,
"dbsnp": "rs11244035",
"frequency_reference_population": 0.043174837,
"hom_count_reference_population": 2507,
"allele_count_reference_population": 62429,
"gnomad_exomes_af": 0.0397053,
"gnomad_genomes_af": 0.0728924,
"gnomad_exomes_ac": 51410,
"gnomad_genomes_ac": 11019,
"gnomad_exomes_homalt": 2046,
"gnomad_genomes_homalt": 461,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00180777907371521,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.002,
"revel_prediction": "Benign",
"alphamissense_score": 0.0779,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.094,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000372034.8",
"gene_symbol": "OBP2B",
"hgnc_id": 23381,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Val167Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}