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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: 15-89776891-G-GGGGCAGGGGCAAGGGCAGGGGCAAGGGCAGGGGCAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89776891&ref=G&alt=GGGGCAGGGGCAAGGGCAGGGGCAAGGGCAGGGGCAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89776891,
"ref": "G",
"alt": "GGGGCAGGGGCAAGGGCAGGGGCAAGGGCAGGGGCAA",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000341735.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "QGQGQGQGQGQGQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MESP2",
"gene_hgnc_id": 29659,
"hgvs_c": "c.557_558insAGGGCAGGGGCAAGGGCAGGGGCAAGGGCAGGGGCA",
"hgvs_p": "p.Gln186_Gly187insGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGln",
"transcript": "NM_001039958.2",
"protein_id": "NP_001035047.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 397,
"cds_start": 558,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": "ENST00000341735.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QGQGQGQGQGQGQ",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MESP2",
"gene_hgnc_id": 29659,
"hgvs_c": "c.557_558insAGGGCAGGGGCAAGGGCAGGGGCAAGGGCAGGGGCA",
"hgvs_p": "p.Gln186_Gly187insGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGln",
"transcript": "ENST00000341735.5",
"protein_id": "ENSP00000342392.3",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 397,
"cds_start": 558,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": "NM_001039958.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MESP2",
"gene_hgnc_id": 29659,
"hgvs_c": "c.31-1151_31-1150insAGGGCAGGGGCAAGGGCAGGGGCAAGGGCAGGGGCA",
"hgvs_p": null,
"transcript": "ENST00000560219.2",
"protein_id": "ENSP00000452998.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MESP2",
"gene_hgnc_id": 29659,
"hgvs_c": "n.39-1151_39-1150insAGGGCAGGGGCAAGGGCAGGGGCAAGGGCAGGGGCA",
"hgvs_p": null,
"transcript": "ENST00000558723.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MESP2",
"gene_hgnc_id": 29659,
"dbsnp": "rs397507446",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.325,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "ENST00000341735.5",
"gene_symbol": "MESP2",
"hgnc_id": 29659,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.557_558insAGGGCAGGGGCAAGGGCAGGGGCAAGGGCAGGGGCA",
"hgvs_p": "p.Gln186_Gly187insGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}