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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: 2-95908690-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=95908690&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 95908690,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001310154.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36C",
"gene_hgnc_id": 32946,
"hgvs_c": "c.2865T>G",
"hgvs_p": "p.Ser955Ser",
"transcript": "NM_001393982.1",
"protein_id": "NP_001380911.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 2119,
"cds_start": 2865,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 2981,
"cdna_end": null,
"cdna_length": 7501,
"mane_select": "ENST00000295246.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393982.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36C",
"gene_hgnc_id": 32946,
"hgvs_c": "c.2865T>G",
"hgvs_p": "p.Ser955Ser",
"transcript": "ENST00000295246.7",
"protein_id": "ENSP00000295246.7",
"transcript_support_level": 5,
"aa_start": 955,
"aa_end": null,
"aa_length": 2119,
"cds_start": 2865,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 2981,
"cdna_end": null,
"cdna_length": 7501,
"mane_select": "NM_001393982.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295246.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD36C",
"gene_hgnc_id": 32946,
"hgvs_c": "c.2940T>G",
"hgvs_p": "p.Ser980Ser",
"transcript": "NM_001310154.3",
"protein_id": "NP_001297083.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 2144,
"cds_start": 2940,
"cds_end": null,
"cds_length": 6435,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 8192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001310154.3"
},
{
"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": 67,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "ANKRD36C",
"gene_hgnc_id": 32946,
"hgvs_c": "c.2653+3554T>G",
"hgvs_p": null,
"transcript": "ENST00000456556.5",
"protein_id": "ENSP00000403302.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1778,
"cds_start": null,
"cds_end": null,
"cds_length": 5337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456556.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ANKRD36C",
"gene_hgnc_id": 32946,
"hgvs_c": "n.*981+3554T>G",
"hgvs_p": null,
"transcript": "ENST00000534304.5",
"protein_id": "ENSP00000433685.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534304.5"
}
],
"gene_symbol": "ANKRD36C",
"gene_hgnc_id": 32946,
"dbsnp": "rs183934154",
"frequency_reference_population": 0.034235947,
"hom_count_reference_population": 977,
"allele_count_reference_population": 53175,
"gnomad_exomes_af": 0.0347491,
"gnomad_genomes_af": 0.0294725,
"gnomad_exomes_ac": 48723,
"gnomad_genomes_ac": 4452,
"gnomad_exomes_homalt": 854,
"gnomad_genomes_homalt": 123,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.196,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BS1,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001310154.3",
"gene_symbol": "ANKRD36C",
"hgnc_id": 32946,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2940T>G",
"hgvs_p": "p.Ser980Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}