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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: 9-33261138-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=33261138&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 33261138,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000634734.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG1",
"gene_hgnc_id": 937,
"hgvs_c": "c.612G>C",
"hgvs_p": "p.Leu204Phe",
"transcript": "NM_004323.6",
"protein_id": "NP_004314.6",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 345,
"cds_start": 612,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "ENST00000634734.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG1",
"gene_hgnc_id": 937,
"hgvs_c": "c.612G>C",
"hgvs_p": "p.Leu204Phe",
"transcript": "ENST00000634734.3",
"protein_id": "ENSP00000489189.2",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 345,
"cds_start": 612,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": "NM_004323.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG1",
"gene_hgnc_id": 937,
"hgvs_c": "c.267G>C",
"hgvs_p": "p.Leu89Phe",
"transcript": "ENST00000379704.7",
"protein_id": "ENSP00000369026.2",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 230,
"cds_start": 267,
"cds_end": null,
"cds_length": 693,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG1",
"gene_hgnc_id": 937,
"hgvs_c": "n.409G>C",
"hgvs_p": null,
"transcript": "ENST00000379707.7",
"protein_id": "ENSP00000369029.2",
"transcript_support_level": 1,
"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": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG1",
"gene_hgnc_id": 937,
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Leu133Phe",
"transcript": "NM_001349286.2",
"protein_id": "NP_001336215.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 274,
"cds_start": 399,
"cds_end": null,
"cds_length": 825,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG1",
"gene_hgnc_id": 937,
"hgvs_c": "c.267G>C",
"hgvs_p": "p.Leu89Phe",
"transcript": "NM_001172415.2",
"protein_id": "NP_001165886.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 230,
"cds_start": 267,
"cds_end": null,
"cds_length": 693,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG1",
"gene_hgnc_id": 937,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Leu66Phe",
"transcript": "NM_001349299.2",
"protein_id": "NP_001336228.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 207,
"cds_start": 198,
"cds_end": null,
"cds_length": 624,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG1",
"gene_hgnc_id": 937,
"hgvs_c": "c.285G>C",
"hgvs_p": "p.Leu95Phe",
"transcript": "ENST00000473781.1",
"protein_id": "ENSP00000419092.1",
"transcript_support_level": 3,
"aa_start": 95,
"aa_end": null,
"aa_length": 149,
"cds_start": 285,
"cds_end": null,
"cds_length": 451,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG1",
"gene_hgnc_id": 937,
"hgvs_c": "c.-19G>C",
"hgvs_p": null,
"transcript": "ENST00000473464.2",
"protein_id": "ENSP00000489401.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": -4,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BAG1",
"gene_hgnc_id": 937,
"dbsnp": null,
"frequency_reference_population": 0.000004800544,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000480054,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7922490835189819,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.836,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.236,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000634734.3",
"gene_symbol": "BAG1",
"hgnc_id": 937,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.612G>C",
"hgvs_p": "p.Leu204Phe"
}
],
"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
}