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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: 14-93206951-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=93206951&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GON7",
"hgnc_id": 20356,
"hgvs_c": "c.87T>C",
"hgvs_p": "p.Pro29Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_032490.5",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000259066",
"hgnc_id": null,
"hgvs_c": "c.208-2873A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -5,
"transcript": "ENST00000557574.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 211,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "14",
"clinvar_classification": "Likely benign",
"clinvar_disease": "GON7-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00800000037997961,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 100,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1125,
"cdna_start": 115,
"cds_end": null,
"cds_length": 303,
"cds_start": 87,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_032490.5",
"gene_hgnc_id": 20356,
"gene_symbol": "GON7",
"hgvs_c": "c.87T>C",
"hgvs_p": "p.Pro29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306954.5",
"protein_coding": true,
"protein_id": "NP_115879.2",
"strand": false,
"transcript": "NM_032490.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 100,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1125,
"cdna_start": 115,
"cds_end": null,
"cds_length": 303,
"cds_start": 87,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000306954.5",
"gene_hgnc_id": 20356,
"gene_symbol": "GON7",
"hgvs_c": "c.87T>C",
"hgvs_p": "p.Pro29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032490.5",
"protein_coding": true,
"protein_id": "ENSP00000306320.4",
"strand": false,
"transcript": "ENST00000306954.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 165,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 554,
"cdna_start": null,
"cds_end": null,
"cds_length": 498,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557574.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000259066",
"hgvs_c": "c.208-2873A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451369.1",
"strand": true,
"transcript": "ENST00000557574.1",
"transcript_support_level": 4
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 114,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1174,
"cdna_start": 118,
"cds_end": null,
"cds_length": 345,
"cds_start": 87,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000923944.1",
"gene_hgnc_id": 20356,
"gene_symbol": "GON7",
"hgvs_c": "c.87T>C",
"hgvs_p": "p.Pro29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594003.1",
"strand": false,
"transcript": "ENST00000923944.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 96,
"aa_ref": "P",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": 96,
"cds_end": null,
"cds_length": 291,
"cds_start": 87,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000870038.1",
"gene_hgnc_id": 20356,
"gene_symbol": "GON7",
"hgvs_c": "c.87T>C",
"hgvs_p": "p.Pro29Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540097.1",
"strand": false,
"transcript": "ENST00000870038.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 78,
"aa_ref": "P",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 398,
"cdna_start": 79,
"cds_end": null,
"cds_length": 237,
"cds_start": 78,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000556566.1",
"gene_hgnc_id": 20356,
"gene_symbol": "GON7",
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Pro26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451114.1",
"strand": false,
"transcript": "ENST00000556566.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554824.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000259066",
"hgvs_c": "n.*61-2873A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451352.1",
"strand": true,
"transcript": "ENST00000554824.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557048.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000259066",
"hgvs_c": "n.60-2873A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000557048.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200749263",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00013072284,
"gene_hgnc_id": 20356,
"gene_symbol": "GON7",
"gnomad_exomes_ac": 194,
"gnomad_exomes_af": 0.000132707,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 17,
"gnomad_genomes_af": 0.000111673,
"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": "Likely benign",
"phenotype_combined": "GON7-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.685,
"pos": 93206951,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.008,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_032490.5"
}
]
}