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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: 9-34520675-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34520675&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34520675,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000242317.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.2019G>T",
"hgvs_p": "p.Glu673Asp",
"transcript": "NM_012144.4",
"protein_id": "NP_036276.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 699,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": "ENST00000242317.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.2019G>T",
"hgvs_p": "p.Glu673Asp",
"transcript": "ENST00000242317.9",
"protein_id": "ENSP00000242317.4",
"transcript_support_level": 1,
"aa_start": 673,
"aa_end": null,
"aa_length": 699,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": "NM_012144.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.2031G>T",
"hgvs_p": "p.Glu677Asp",
"transcript": "NM_001281428.2",
"protein_id": "NP_001268357.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 703,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.2031G>T",
"hgvs_p": "p.Glu677Asp",
"transcript": "ENST00000614641.4",
"protein_id": "ENSP00000480538.1",
"transcript_support_level": 5,
"aa_start": 677,
"aa_end": null,
"aa_length": 703,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Glu115Asp",
"transcript": "ENST00000442556.1",
"protein_id": "ENSP00000408129.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 141,
"cds_start": 345,
"cds_end": null,
"cds_length": 426,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"dbsnp": "rs576215372",
"frequency_reference_population": 7.1460624e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.14606e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17264017462730408,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.648,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.124,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.407,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000242317.9",
"gene_symbol": "DNAI1",
"hgnc_id": 2954,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2019G>T",
"hgvs_p": "p.Glu673Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}