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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: X-120626412-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=120626412&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 120626412,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152692.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"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": "C1GALT1C1",
"gene_hgnc_id": 24338,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Gly252Glu",
"transcript": "NM_001011551.3",
"protein_id": "NP_001011551.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 318,
"cds_start": 755,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304661.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011551.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "C1GALT1C1",
"gene_hgnc_id": 24338,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Gly252Glu",
"transcript": "ENST00000304661.6",
"protein_id": "ENSP00000304364.5",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 318,
"cds_start": 755,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001011551.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304661.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1C1",
"gene_hgnc_id": 24338,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Gly252Glu",
"transcript": "ENST00000371313.2",
"protein_id": "ENSP00000360363.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 318,
"cds_start": 755,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371313.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1C1",
"gene_hgnc_id": 24338,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Gly252Glu",
"transcript": "NM_152692.5",
"protein_id": "NP_689905.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 318,
"cds_start": 755,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152692.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "C1GALT1C1",
"gene_hgnc_id": 24338,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Gly252Glu",
"transcript": "ENST00000899457.1",
"protein_id": "ENSP00000569516.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 318,
"cds_start": 755,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899457.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "C1GALT1C1",
"gene_hgnc_id": 24338,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Gly252Glu",
"transcript": "ENST00000963053.1",
"protein_id": "ENSP00000633112.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 318,
"cds_start": 755,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963053.1"
}
],
"gene_symbol": "C1GALT1C1",
"gene_hgnc_id": 24338,
"dbsnp": "rs146957987",
"frequency_reference_population": 0.0000057816023,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000364373,
"gnomad_genomes_af": 0.0000265578,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07656466960906982,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.1644,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.267,
"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": "NM_152692.5",
"gene_symbol": "C1GALT1C1",
"hgnc_id": 24338,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Gly252Glu"
}
],
"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
}