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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: 11-59806765-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=59806765&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 59806765,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017840.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL16",
"gene_hgnc_id": 14476,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "NM_017840.4",
"protein_id": "NP_060310.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 251,
"cds_start": 338,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300151.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017840.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL16",
"gene_hgnc_id": 14476,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000300151.5",
"protein_id": "ENSP00000300151.4",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 251,
"cds_start": 338,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017840.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300151.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL16",
"gene_hgnc_id": 14476,
"hgvs_c": "c.359T>C",
"hgvs_p": "p.Met120Thr",
"transcript": "ENST00000923617.1",
"protein_id": "ENSP00000593676.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 258,
"cds_start": 359,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923617.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL16",
"gene_hgnc_id": 14476,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Met91Thr",
"transcript": "ENST00000923616.1",
"protein_id": "ENSP00000593675.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 229,
"cds_start": 272,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923616.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL16",
"gene_hgnc_id": 14476,
"hgvs_c": "c.29T>C",
"hgvs_p": "p.Met10Thr",
"transcript": "ENST00000534340.1",
"protein_id": "ENSP00000436592.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 85,
"cds_start": 29,
"cds_end": null,
"cds_length": 259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534340.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MRPL16",
"gene_hgnc_id": 14476,
"hgvs_c": "c.271-11T>C",
"hgvs_p": null,
"transcript": "ENST00000884381.1",
"protein_id": "ENSP00000554440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": null,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884381.1"
}
],
"gene_symbol": "MRPL16",
"gene_hgnc_id": 14476,
"dbsnp": "rs777437705",
"frequency_reference_population": 0.000006195902,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615712,
"gnomad_genomes_af": 0.00000656823,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5866018533706665,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.306,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3055,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.27,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017840.4",
"gene_symbol": "MRPL16",
"hgnc_id": 14476,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}