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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: 19-35282616-GCTCCTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35282616&ref=GCTCCTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35282616,
"ref": "GCTCCTC",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "NM_021175.4",
"consequences": [
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAMP",
"gene_hgnc_id": 15598,
"hgvs_c": "c.49_54delCTCCTC",
"hgvs_p": "p.Leu17_Leu18del",
"transcript": "NM_021175.4",
"protein_id": "NP_066998.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 84,
"cds_start": 49,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222304.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021175.4"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAMP",
"gene_hgnc_id": 15598,
"hgvs_c": "c.49_54delCTCCTC",
"hgvs_p": "p.Leu17_Leu18del",
"transcript": "ENST00000222304.5",
"protein_id": "ENSP00000222304.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 84,
"cds_start": 49,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021175.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222304.5"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAMP",
"gene_hgnc_id": 15598,
"hgvs_c": "c.49_54delCTCCTC",
"hgvs_p": "p.Leu17_Leu18del",
"transcript": "ENST00000598398.5",
"protein_id": "ENSP00000471894.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 84,
"cds_start": 49,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598398.5"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAMP",
"gene_hgnc_id": 15598,
"hgvs_c": "c.49_54delCTCCTC",
"hgvs_p": "p.Leu17_Leu18del",
"transcript": "ENST00000869749.1",
"protein_id": "ENSP00000539808.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 80,
"cds_start": 49,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869749.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAMP",
"gene_hgnc_id": 15598,
"hgvs_c": "c.49_54delCTCCTC",
"hgvs_p": "p.Leu17_Leu18del",
"transcript": "ENST00000869748.1",
"protein_id": "ENSP00000539807.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 64,
"cds_start": 49,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869748.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAMP",
"gene_hgnc_id": 15598,
"hgvs_c": "n.110_115delCTCCTC",
"hgvs_p": null,
"transcript": "ENST00000593580.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000593580.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307628",
"gene_hgnc_id": null,
"hgvs_c": "n.392-1749_392-1744delGAGGAG",
"hgvs_p": null,
"transcript": "ENST00000827558.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000827558.1"
}
],
"gene_symbol": "HAMP",
"gene_hgnc_id": 15598,
"dbsnp": "rs760383487",
"frequency_reference_population": 0.0000074370087,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752718,
"gnomad_genomes_af": 0.00000657108,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 1.944,
"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": 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_021175.4",
"gene_symbol": "HAMP",
"hgnc_id": 15598,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.49_54delCTCCTC",
"hgvs_p": "p.Leu17_Leu18del"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000827558.1",
"gene_symbol": "ENSG00000307628",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.392-1749_392-1744delGAGGAG",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary hemochromatosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary hemochromatosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}