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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: 22-37768172-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37768172&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37768172,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000644935.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.6571C>T",
"hgvs_p": "p.His2191Tyr",
"transcript": "NM_001039141.3",
"protein_id": "NP_001034230.1",
"transcript_support_level": null,
"aa_start": 2191,
"aa_end": null,
"aa_length": 2365,
"cds_start": 6571,
"cds_end": null,
"cds_length": 7098,
"cdna_start": 6782,
"cdna_end": null,
"cdna_length": 10085,
"mane_select": "ENST00000644935.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.6571C>T",
"hgvs_p": "p.His2191Tyr",
"transcript": "ENST00000644935.1",
"protein_id": "ENSP00000496394.1",
"transcript_support_level": null,
"aa_start": 2191,
"aa_end": null,
"aa_length": 2365,
"cds_start": 6571,
"cds_end": null,
"cds_length": 7098,
"cdna_start": 6782,
"cdna_end": null,
"cdna_length": 10085,
"mane_select": "NM_001039141.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.1432C>T",
"hgvs_p": "p.His478Tyr",
"transcript": "ENST00000403663.6",
"protein_id": "ENSP00000386026.2",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 652,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.1432C>T",
"hgvs_p": "p.His478Tyr",
"transcript": "NM_007032.5",
"protein_id": "NP_008963.3",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 652,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 4739,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.*6054C>T",
"hgvs_p": null,
"transcript": "ENST00000344404.10",
"protein_id": "ENSP00000340312.6",
"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": 7300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.*6054C>T",
"hgvs_p": null,
"transcript": "ENST00000344404.10",
"protein_id": "ENSP00000340312.6",
"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": 7300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"dbsnp": "rs61729063",
"frequency_reference_population": 0.0010829415,
"hom_count_reference_population": 15,
"allele_count_reference_population": 1745,
"gnomad_exomes_af": 0.000596952,
"gnomad_genomes_af": 0.00573965,
"gnomad_exomes_ac": 871,
"gnomad_genomes_ac": 874,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006852179765701294,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.2699,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.064,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000644935.1",
"gene_symbol": "TRIOBP",
"hgnc_id": 17009,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6571C>T",
"hgvs_p": "p.His2191Tyr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}