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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: 11-59806556-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=59806556&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MRPL16",
"hgnc_id": 14476,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Leu183Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_017840.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_score": -5,
"allele_count_reference_population": 57,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6100000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 251,
"aa_ref": "L",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1083,
"cdna_start": 667,
"cds_end": null,
"cds_length": 756,
"cds_start": 547,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_017840.4",
"gene_hgnc_id": 14476,
"gene_symbol": "MRPL16",
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Leu183Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300151.5",
"protein_coding": true,
"protein_id": "NP_060310.1",
"strand": false,
"transcript": "NM_017840.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 251,
"aa_ref": "L",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1083,
"cdna_start": 667,
"cds_end": null,
"cds_length": 756,
"cds_start": 547,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000300151.5",
"gene_hgnc_id": 14476,
"gene_symbol": "MRPL16",
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Leu183Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017840.4",
"protein_coding": true,
"protein_id": "ENSP00000300151.4",
"strand": false,
"transcript": "ENST00000300151.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 258,
"aa_ref": "L",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1027,
"cdna_start": 611,
"cds_end": null,
"cds_length": 777,
"cds_start": 568,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000923617.1",
"gene_hgnc_id": 14476,
"gene_symbol": "MRPL16",
"hgvs_c": "c.568T>C",
"hgvs_p": "p.Leu190Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593676.1",
"strand": false,
"transcript": "ENST00000923617.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 229,
"aa_ref": "L",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 986,
"cdna_start": 570,
"cds_end": null,
"cds_length": 690,
"cds_start": 481,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000923616.1",
"gene_hgnc_id": 14476,
"gene_symbol": "MRPL16",
"hgvs_c": "c.481T>C",
"hgvs_p": "p.Leu161Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593675.1",
"strand": false,
"transcript": "ENST00000923616.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 225,
"aa_ref": "L",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": 590,
"cds_end": null,
"cds_length": 678,
"cds_start": 469,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000884381.1",
"gene_hgnc_id": 14476,
"gene_symbol": "MRPL16",
"hgvs_c": "c.469T>C",
"hgvs_p": "p.Leu157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554440.1",
"strand": false,
"transcript": "ENST00000884381.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 85,
"aa_ref": "L",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 574,
"cdna_start": 553,
"cds_end": null,
"cds_length": 259,
"cds_start": 238,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000534340.1",
"gene_hgnc_id": 14476,
"gene_symbol": "MRPL16",
"hgvs_c": "c.238T>C",
"hgvs_p": "p.Leu80Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436592.1",
"strand": false,
"transcript": "ENST00000534340.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs756237364",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000035310517,
"gene_hgnc_id": 14476,
"gene_symbol": "MRPL16",
"gnomad_exomes_ac": 47,
"gnomad_exomes_af": 0.0000321501,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.0000656349,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.313,
"pos": 59806556,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_017840.4"
}
]
}