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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: 10-70121102-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70121102&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 70121102,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000307864.3",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Met135Thr",
"transcript": "NM_032797.6",
"protein_id": "NP_116186.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 373,
"cds_start": 404,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": "ENST00000307864.3",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Met135Thr",
"transcript": "ENST00000307864.3",
"protein_id": "ENSP00000312370.1",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 373,
"cds_start": 404,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": "NM_032797.6",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Met135Thr",
"transcript": "ENST00000373248.5",
"protein_id": "ENSP00000362345.1",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 373,
"cds_start": 404,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 2570,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Met135Thr",
"transcript": "NM_001198696.2",
"protein_id": "NP_001185625.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 373,
"cds_start": 404,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 3137,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Met135Thr",
"transcript": "ENST00000613322.4",
"protein_id": "ENSP00000478931.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 373,
"cds_start": 404,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"dbsnp": "rs10999147",
"frequency_reference_population": 0.08153205,
"hom_count_reference_population": 6278,
"allele_count_reference_population": 131490,
"gnomad_exomes_af": 0.0833001,
"gnomad_genomes_af": 0.0645284,
"gnomad_exomes_ac": 121688,
"gnomad_genomes_ac": 9802,
"gnomad_exomes_homalt": 5819,
"gnomad_genomes_homalt": 459,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0016267001628875732,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.2566,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.881,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000307864.3",
"gene_symbol": "AIFM2",
"hgnc_id": 21411,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Met135Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}