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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: 16-1772860-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1772860&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1772860,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_023936.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.260G>T",
"hgvs_p": "p.Trp87Leu",
"transcript": "NM_023936.2",
"protein_id": "NP_076425.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 218,
"cds_start": 260,
"cds_end": null,
"cds_length": 657,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 998,
"mane_select": "ENST00000397375.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.260G>T",
"hgvs_p": "p.Trp87Leu",
"transcript": "ENST00000397375.7",
"protein_id": "ENSP00000380531.3",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 218,
"cds_start": 260,
"cds_end": null,
"cds_length": 657,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 998,
"mane_select": "NM_023936.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.260G>T",
"hgvs_p": "p.Trp87Leu",
"transcript": "ENST00000177742.7",
"protein_id": "ENSP00000177742.3",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 225,
"cds_start": 260,
"cds_end": null,
"cds_length": 678,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME2",
"gene_hgnc_id": 27289,
"hgvs_c": "c.-368C>A",
"hgvs_p": null,
"transcript": "NM_001257370.2",
"protein_id": "NP_001244299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": "ENST00000568449.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EME2",
"gene_hgnc_id": 27289,
"hgvs_c": "c.-368C>A",
"hgvs_p": null,
"transcript": "ENST00000568449.7",
"protein_id": "ENSP00000457353.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": "NM_001257370.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "c.260G>T",
"hgvs_p": "p.Trp87Leu",
"transcript": "NM_001300900.2",
"protein_id": "NP_001287829.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 225,
"cds_start": 260,
"cds_end": null,
"cds_length": 678,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"hgvs_c": "n.-162G>T",
"hgvs_p": null,
"transcript": "ENST00000569585.1",
"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": 713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MRPS34",
"gene_hgnc_id": 16618,
"dbsnp": "rs947756957",
"frequency_reference_population": 0.0000013817231,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.72067e-7,
"gnomad_genomes_af": 0.0000065684,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20836368203163147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.3254,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.547,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "NM_023936.2",
"gene_symbol": "MRPS34",
"hgnc_id": 16618,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.260G>T",
"hgvs_p": "p.Trp87Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001257370.2",
"gene_symbol": "EME2",
"hgnc_id": 27289,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-368C>A",
"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
}