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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: 1-111441243-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111441243&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 111441243,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000235090.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR77",
"gene_hgnc_id": 29652,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Ser339Asn",
"transcript": "NM_024102.4",
"protein_id": "NP_077007.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 342,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": "ENST00000235090.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR77",
"gene_hgnc_id": 29652,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Ser339Asn",
"transcript": "ENST00000235090.10",
"protein_id": "ENSP00000235090.5",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 342,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": "NM_024102.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR77",
"gene_hgnc_id": 29652,
"hgvs_c": "c.1052G>A",
"hgvs_p": "p.Ser351Asn",
"transcript": "NM_001317062.2",
"protein_id": "NP_001303991.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 354,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR77",
"gene_hgnc_id": 29652,
"hgvs_c": "c.1010G>A",
"hgvs_p": "p.Ser337Asn",
"transcript": "NM_001317063.2",
"protein_id": "NP_001303992.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 340,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR77",
"gene_hgnc_id": 29652,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Ser287Asn",
"transcript": "ENST00000449340.1",
"protein_id": "ENSP00000409300.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 290,
"cds_start": 860,
"cds_end": null,
"cds_length": 873,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR77",
"gene_hgnc_id": 29652,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Ser275Asn",
"transcript": "NM_001317064.2",
"protein_id": "NP_001303993.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 278,
"cds_start": 824,
"cds_end": null,
"cds_length": 837,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000243960",
"gene_hgnc_id": null,
"hgvs_c": "n.122G>A",
"hgvs_p": null,
"transcript": "ENST00000445680.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR77",
"gene_hgnc_id": 29652,
"hgvs_c": "n.961G>A",
"hgvs_p": null,
"transcript": "NR_133654.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000243960",
"gene_hgnc_id": null,
"hgvs_c": "n.-15G>A",
"hgvs_p": null,
"transcript": "ENST00000416099.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR77",
"gene_hgnc_id": 29652,
"hgvs_c": "n.*55G>A",
"hgvs_p": null,
"transcript": "ENST00000497278.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR77",
"gene_hgnc_id": 29652,
"dbsnp": "rs1000417950",
"frequency_reference_population": 0.00001420251,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000150342,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10688188672065735,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0879,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.638,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000235090.10",
"gene_symbol": "WDR77",
"hgnc_id": 29652,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Ser339Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000445680.1",
"gene_symbol": "ENSG00000243960",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.122G>A",
"hgvs_p": null
}
],
"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
}