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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: 19-55579134-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55579134&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55579134,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000325421.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF579",
"gene_hgnc_id": 26646,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Ala169Gly",
"transcript": "NM_152600.3",
"protein_id": "NP_689813.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 562,
"cds_start": 506,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": "ENST00000325421.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF579",
"gene_hgnc_id": 26646,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Ala169Gly",
"transcript": "ENST00000325421.7",
"protein_id": "ENSP00000320188.3",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 562,
"cds_start": 506,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": "NM_152600.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF579",
"gene_hgnc_id": 26646,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Ala169Gly",
"transcript": "XM_017026409.3",
"protein_id": "XP_016881898.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 640,
"cds_start": 506,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF579",
"gene_hgnc_id": 26646,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Ala169Gly",
"transcript": "XM_047438318.1",
"protein_id": "XP_047294274.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 640,
"cds_start": 506,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF579",
"gene_hgnc_id": 26646,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Ala169Gly",
"transcript": "XM_017026410.3",
"protein_id": "XP_016881899.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 628,
"cds_start": 506,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF579",
"gene_hgnc_id": 26646,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Ala169Gly",
"transcript": "XM_017026411.3",
"protein_id": "XP_016881900.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 617,
"cds_start": 506,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF579",
"gene_hgnc_id": 26646,
"dbsnp": "rs369540231",
"frequency_reference_population": 0.000024262486,
"hom_count_reference_population": 1,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000262227,
"gnomad_genomes_af": 0.00000657315,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06922870874404907,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.1164,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.093,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000325421.7",
"gene_symbol": "ZNF579",
"hgnc_id": 26646,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Ala169Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}