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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: 11-107326972-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=107326972&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 107326972,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152434.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.2623A>G",
"hgvs_p": "p.Lys875Glu",
"transcript": "NM_152434.3",
"protein_id": "NP_689647.2",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 894,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": "ENST00000282251.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.2623A>G",
"hgvs_p": "p.Lys875Glu",
"transcript": "ENST00000282251.10",
"protein_id": "ENSP00000282251.5",
"transcript_support_level": 1,
"aa_start": 875,
"aa_end": null,
"aa_length": 894,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": "NM_152434.3",
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "n.*471A>G",
"hgvs_p": null,
"transcript": "ENST00000431778.5",
"protein_id": "ENSP00000411736.1",
"transcript_support_level": 1,
"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": 2955,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "n.*546A>G",
"hgvs_p": null,
"transcript": "ENST00000532251.1",
"protein_id": "ENSP00000434704.1",
"transcript_support_level": 1,
"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": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "n.*471A>G",
"hgvs_p": null,
"transcript": "ENST00000431778.5",
"protein_id": "ENSP00000411736.1",
"transcript_support_level": 1,
"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": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "n.*546A>G",
"hgvs_p": null,
"transcript": "ENST00000532251.1",
"protein_id": "ENSP00000434704.1",
"transcript_support_level": 1,
"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": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Lys399Glu",
"transcript": "XM_047426419.1",
"protein_id": "XP_047282375.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 418,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"dbsnp": "rs144786053",
"frequency_reference_population": 0.0000099240315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000890376,
"gnomad_genomes_af": 0.0000197122,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7203885912895203,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.322,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.777,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.918,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152434.3",
"gene_symbol": "CWF19L2",
"hgnc_id": 26508,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2623A>G",
"hgvs_p": "p.Lys875Glu"
}
],
"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
}