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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: 16-88598656-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=88598656&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 88598656,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000301011.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "NM_144604.4",
"protein_id": "NP_653205.3",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 953,
"cds_start": 874,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": "ENST00000301011.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000301011.10",
"protein_id": "ENSP00000301011.5",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 953,
"cds_start": 874,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": "NM_144604.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Pro316Ala",
"transcript": "NM_001294340.2",
"protein_id": "NP_001281269.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 977,
"cds_start": 946,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Pro316Ala",
"transcript": "ENST00000452588.6",
"protein_id": "ENSP00000416951.2",
"transcript_support_level": 2,
"aa_start": 316,
"aa_end": null,
"aa_length": 977,
"cds_start": 946,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Pro85Ala",
"transcript": "ENST00000567085.1",
"protein_id": "ENSP00000455083.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 236,
"cds_start": 253,
"cds_end": null,
"cds_length": 711,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.523C>G",
"hgvs_p": "p.Pro175Ala",
"transcript": "ENST00000569435.5",
"protein_id": "ENSP00000455260.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 196,
"cds_start": 523,
"cds_end": null,
"cds_length": 591,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "XM_047433609.1",
"protein_id": "XP_047289565.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 860,
"cds_start": 595,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Pro316Ala",
"transcript": "XM_011522863.2",
"protein_id": "XP_011521165.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 848,
"cds_start": 946,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.523C>G",
"hgvs_p": "p.Pro175Ala",
"transcript": "XM_047433611.1",
"protein_id": "XP_047289567.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 836,
"cds_start": 523,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 3354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "XM_047433612.1",
"protein_id": "XP_047289568.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 824,
"cds_start": 874,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "XM_047433613.1",
"protein_id": "XP_047289569.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 731,
"cds_start": 595,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.523C>G",
"hgvs_p": "p.Pro175Ala",
"transcript": "XM_047433614.1",
"protein_id": "XP_047289570.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 707,
"cds_start": 523,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Pro316Ala",
"transcript": "XM_017022934.2",
"protein_id": "XP_016878423.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 481,
"cds_start": 946,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZC3H18",
"gene_hgnc_id": 25091,
"dbsnp": "rs746214348",
"frequency_reference_population": 0.0000117802865,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.00000821522,
"gnomad_genomes_af": 0.0000460042,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11653998494148254,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.1241,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.298,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000301011.10",
"gene_symbol": "ZC3H18",
"hgnc_id": 25091,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala"
}
],
"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
}