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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: 14-102507042-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102507042&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102507042,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000286918.9",
"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": "ANKRD9",
"gene_hgnc_id": 20096,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Met283Thr",
"transcript": "NM_152326.4",
"protein_id": "NP_689539.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 317,
"cds_start": 848,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 6705,
"mane_select": "ENST00000286918.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ANKRD9",
"gene_hgnc_id": 20096,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Met283Thr",
"transcript": "ENST00000286918.9",
"protein_id": "ENSP00000286918.4",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 317,
"cds_start": 848,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 6705,
"mane_select": "NM_152326.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD9",
"gene_hgnc_id": 20096,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Met283Thr",
"transcript": "ENST00000559651.1",
"protein_id": "ENSP00000454100.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 317,
"cds_start": 848,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ANKRD9",
"gene_hgnc_id": 20096,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Met283Thr",
"transcript": "NM_001348651.2",
"protein_id": "NP_001335580.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 317,
"cds_start": 848,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 6711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ANKRD9",
"gene_hgnc_id": 20096,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Met283Thr",
"transcript": "NM_001348652.2",
"protein_id": "NP_001335581.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 317,
"cds_start": 848,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 6499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ANKRD9",
"gene_hgnc_id": 20096,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Met283Thr",
"transcript": "ENST00000560748.5",
"protein_id": "ENSP00000453650.1",
"transcript_support_level": 2,
"aa_start": 283,
"aa_end": null,
"aa_length": 317,
"cds_start": 848,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD9",
"gene_hgnc_id": 20096,
"hgvs_c": "c.*69T>C",
"hgvs_p": null,
"transcript": "ENST00000559404.5",
"protein_id": "ENSP00000453417.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD9",
"gene_hgnc_id": 20096,
"dbsnp": "rs747588042",
"frequency_reference_population": 0.0000028014658,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000280147,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9148446321487427,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.789,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.002,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000286918.9",
"gene_symbol": "ANKRD9",
"hgnc_id": 20096,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Met283Thr"
}
],
"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
}