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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: 4-177442248-C-CCCGCAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=177442248&ref=C&alt=CCCGCAT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 177442248,
"ref": "C",
"alt": "CCCGCAT",
"effect": "conservative_inframe_insertion,splice_region_variant",
"transcript": "ENST00000264595.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "DAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "c.127_127+1insATGCGG",
"hgvs_p": "p.Ala42_Ala43insAspAla",
"transcript": "NM_000027.4",
"protein_id": "NP_000018.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 346,
"cds_start": 127,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": "ENST00000264595.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "DAA",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "c.127_127+1insATGCGG",
"hgvs_p": "p.Ala42_Ala43insAspAla",
"transcript": "ENST00000264595.7",
"protein_id": "ENSP00000264595.2",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 346,
"cds_start": 127,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": "NM_000027.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "DAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "c.127_127+1insATGCGG",
"hgvs_p": "p.Ala42_Ala43insAspAla",
"transcript": "NM_001171988.2",
"protein_id": "NP_001165459.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 336,
"cds_start": 127,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "DAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "c.127_127+1insATGCGG",
"hgvs_p": "p.Ala42_Ala43insAspAla",
"transcript": "XM_047449722.1",
"protein_id": "XP_047305678.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 227,
"cds_start": 127,
"cds_end": null,
"cds_length": 684,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "n.161_161+1insATGCGG",
"hgvs_p": null,
"transcript": "ENST00000506853.5",
"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": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "n.161_161+1insATGCGG",
"hgvs_p": null,
"transcript": "ENST00000510955.5",
"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": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "n.161_161+1insATGCGG",
"hgvs_p": null,
"transcript": "ENST00000511231.1",
"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": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "n.189_189+1insATGCGG",
"hgvs_p": null,
"transcript": "NR_033655.2",
"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": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"dbsnp": "rs386833418",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.334,
"phylop100way_prediction": "Benign",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264595.7",
"gene_symbol": "AGA",
"hgnc_id": 318,
"effects": [
"conservative_inframe_insertion",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.127_127+1insATGCGG",
"hgvs_p": "p.Ala42_Ala43insAspAla"
}
],
"clinvar_disease": "Aspartylglucosaminuria",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Aspartylglucosaminuria",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}