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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: 21-33421548-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33421548&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33421548,
"ref": "CAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000290219.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.278_279delAG",
"hgvs_p": "p.Glu93fs",
"transcript": "NM_005534.4",
"protein_id": "NP_005525.2",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 337,
"cds_start": 278,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": "ENST00000290219.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.278_279delAG",
"hgvs_p": "p.Glu93fs",
"transcript": "ENST00000290219.11",
"protein_id": "ENSP00000290219.5",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 337,
"cds_start": 278,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": "NM_005534.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.335_336delAG",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001329128.2",
"protein_id": "NP_001316057.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 356,
"cds_start": 335,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.335_336delAG",
"hgvs_p": "p.Glu112fs",
"transcript": "ENST00000381995.5",
"protein_id": "ENSP00000371425.1",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 356,
"cds_start": 335,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.173_174delAG",
"hgvs_p": "p.Glu58fs",
"transcript": "ENST00000696724.1",
"protein_id": "ENSP00000512835.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 334,
"cds_start": 173,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.41_42delAG",
"hgvs_p": "p.Glu14fs",
"transcript": "ENST00000405436.5",
"protein_id": "ENSP00000385044.1",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 258,
"cds_start": 41,
"cds_end": null,
"cds_length": 777,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "n.*253_*254delAG",
"hgvs_p": null,
"transcript": "ENST00000439213.5",
"protein_id": "ENSP00000407541.1",
"transcript_support_level": 5,
"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": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "n.*31_*32delAG",
"hgvs_p": null,
"transcript": "ENST00000545369.2",
"protein_id": "ENSP00000442735.2",
"transcript_support_level": 5,
"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": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "n.*253_*254delAG",
"hgvs_p": null,
"transcript": "ENST00000439213.5",
"protein_id": "ENSP00000407541.1",
"transcript_support_level": 5,
"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": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "n.*31_*32delAG",
"hgvs_p": null,
"transcript": "ENST00000545369.2",
"protein_id": "ENSP00000442735.2",
"transcript_support_level": 5,
"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": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"dbsnp": "rs587776822",
"frequency_reference_population": 6.840778e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84078e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.935,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000290219.11",
"gene_symbol": "IFNGR2",
"hgnc_id": 5440,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.278_279delAG",
"hgvs_p": "p.Glu93fs"
}
],
"clinvar_disease": "Immunodeficiency 28",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Immunodeficiency 28",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}