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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: 14-33950541-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=33950541&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 33950541,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000250457.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN3",
"gene_hgnc_id": 14661,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71Gln",
"transcript": "NM_022073.4",
"protein_id": "NP_071356.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 239,
"cds_start": 212,
"cds_end": null,
"cds_length": 720,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": "ENST00000250457.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN3",
"gene_hgnc_id": 14661,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71Gln",
"transcript": "ENST00000250457.9",
"protein_id": "ENSP00000250457.4",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 239,
"cds_start": 212,
"cds_end": null,
"cds_length": 720,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": "NM_022073.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EGLN3",
"gene_hgnc_id": 14661,
"hgvs_c": "c.75+137G>A",
"hgvs_p": null,
"transcript": "ENST00000553215.5",
"protein_id": "ENSP00000447470.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": -4,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN3",
"gene_hgnc_id": 14661,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71Gln",
"transcript": "ENST00000547327.2",
"protein_id": "ENSP00000446572.2",
"transcript_support_level": 6,
"aa_start": 71,
"aa_end": null,
"aa_length": 148,
"cds_start": 212,
"cds_end": null,
"cds_length": 447,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EGLN3",
"gene_hgnc_id": 14661,
"hgvs_c": "c.75+137G>A",
"hgvs_p": null,
"transcript": "NM_001308103.2",
"protein_id": "NP_001295032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": -4,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EGLN3",
"gene_hgnc_id": 14661,
"hgvs_c": "c.4-19326G>A",
"hgvs_p": null,
"transcript": "ENST00000487915.6",
"protein_id": "ENSP00000451316.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 78,
"cds_start": -4,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EGLN3",
"gene_hgnc_id": 14661,
"dbsnp": "rs34347250",
"frequency_reference_population": 0.00070878095,
"hom_count_reference_population": 6,
"allele_count_reference_population": 1143,
"gnomad_exomes_af": 0.000418393,
"gnomad_genomes_af": 0.00349361,
"gnomad_exomes_ac": 611,
"gnomad_genomes_ac": 532,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00550881028175354,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.1357,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.002,
"phylop100way_prediction": "Benign",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000250457.9",
"gene_symbol": "EGLN3",
"hgnc_id": 14661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}