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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: 19-57572750-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57572750&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 57572750,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017879.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"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": "ZNF416",
"gene_hgnc_id": 20645,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Gly385Val",
"transcript": "NM_017879.3",
"protein_id": "NP_060349.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 594,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000196489.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017879.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "ZNF416",
"gene_hgnc_id": 20645,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Gly385Val",
"transcript": "ENST00000196489.4",
"protein_id": "ENSP00000196489.2",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 594,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017879.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000196489.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "ZNF416",
"gene_hgnc_id": 20645,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Gly371Val",
"transcript": "ENST00000896581.1",
"protein_id": "ENSP00000566640.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 580,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896581.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "ZNF416",
"gene_hgnc_id": 20645,
"hgvs_c": "c.938G>T",
"hgvs_p": "p.Gly313Val",
"transcript": "NM_001353405.2",
"protein_id": "NP_001340334.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 522,
"cds_start": 938,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353405.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF416",
"gene_hgnc_id": 20645,
"hgvs_c": "c.1094G>T",
"hgvs_p": "p.Gly365Val",
"transcript": "XM_024451594.2",
"protein_id": "XP_024307362.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 574,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451594.2"
}
],
"gene_symbol": "ZNF416",
"gene_hgnc_id": 20645,
"dbsnp": "rs201445198",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-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": 0.040372490882873535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.1464,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.775,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017879.3",
"gene_symbol": "ZNF416",
"hgnc_id": 20645,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Gly385Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}