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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: 3-101693134-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=101693134&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 101693134,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000715156.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293268",
"gene_hgnc_id": null,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "ENST00000715156.1",
"protein_id": "ENSP00000520357.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 738,
"cds_start": 343,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 8687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293268",
"gene_hgnc_id": null,
"hgvs_c": "c.130C>A",
"hgvs_p": "p.Gln44Lys",
"transcript": "ENST00000715157.1",
"protein_id": "ENSP00000520358.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 667,
"cds_start": 130,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 6308,
"cdna_end": null,
"cdna_length": 14100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906262",
"gene_hgnc_id": null,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "XM_047449411.1",
"protein_id": "XP_047305367.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 738,
"cds_start": 343,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 4621,
"cdna_end": null,
"cdna_length": 15260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906262",
"gene_hgnc_id": null,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "XM_047449412.1",
"protein_id": "XP_047305368.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 738,
"cds_start": 343,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 4500,
"cdna_end": null,
"cdna_length": 15139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906262",
"gene_hgnc_id": null,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "XM_047449413.1",
"protein_id": "XP_047305369.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 738,
"cds_start": 343,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 4243,
"cdna_end": null,
"cdna_length": 14882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906262",
"gene_hgnc_id": null,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "XM_047449414.1",
"protein_id": "XP_047305370.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 738,
"cds_start": 343,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 14294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124906262",
"gene_hgnc_id": null,
"hgvs_c": "c.253C>A",
"hgvs_p": "p.Gln85Lys",
"transcript": "XM_047449415.1",
"protein_id": "XP_047305371.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 708,
"cds_start": 253,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 4531,
"cdna_end": null,
"cdna_length": 15170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293268",
"gene_hgnc_id": null,
"hgvs_c": "n.730+165C>A",
"hgvs_p": null,
"transcript": "ENST00000667844.1",
"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": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293268",
"gene_hgnc_id": null,
"hgvs_c": "n.697+165C>A",
"hgvs_p": null,
"transcript": "ENST00000685383.1",
"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": 4797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENSG00000293268",
"gene_hgnc_id": null,
"dbsnp": "rs112553552",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.254278,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 28112,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": null,
"phylop100way_prediction": null,
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000715156.1",
"gene_symbol": "ENSG00000293268",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_047449411.1",
"gene_symbol": "LOC124906262",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}