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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: 21-33403590-TCGC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33403590&ref=TCGC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33403590,
"ref": "TCGC",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000290219.11",
"consequences": [
{
"aa_ref": "AA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.60_62delCGC",
"hgvs_p": "p.Ala21del",
"transcript": "NM_005534.4",
"protein_id": "NP_005525.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 337,
"cds_start": 60,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": "ENST00000290219.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AA",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.60_62delCGC",
"hgvs_p": "p.Ala21del",
"transcript": "ENST00000290219.11",
"protein_id": "ENSP00000290219.5",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 337,
"cds_start": 60,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": "NM_005534.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.60_62delCGC",
"hgvs_p": "p.Ala21del",
"transcript": "NM_001329128.2",
"protein_id": "NP_001316057.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 356,
"cds_start": 60,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.60_62delCGC",
"hgvs_p": "p.Ala21del",
"transcript": "ENST00000381995.5",
"protein_id": "ENSP00000371425.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 356,
"cds_start": 60,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 1742,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "n.60_62delCGC",
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "n.60_62delCGC",
"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": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"hgvs_c": "c.-230_-228delCGC",
"hgvs_p": null,
"transcript": "ENST00000405436.5",
"protein_id": "ENSP00000385044.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFNGR2",
"gene_hgnc_id": 5440,
"dbsnp": "rs765468464",
"frequency_reference_population": 0.0007033127,
"hom_count_reference_population": 0,
"allele_count_reference_population": 852,
"gnomad_exomes_af": 0.000703313,
"gnomad_genomes_af": 0.00000665832,
"gnomad_exomes_ac": 852,
"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": 0,
"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": 0.411,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting,BP6",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000290219.11",
"gene_symbol": "IFNGR2",
"hgnc_id": 5440,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.60_62delCGC",
"hgvs_p": "p.Ala21del"
}
],
"clinvar_disease": "IFNGR2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "IFNGR2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}