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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: 2-232534120-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232534120&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232534120,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000258385.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.1237C>G",
"hgvs_p": "p.Arg413Gly",
"transcript": "NM_000751.3",
"protein_id": "NP_000742.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 517,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "ENST00000258385.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.1237C>G",
"hgvs_p": "p.Arg413Gly",
"transcript": "ENST00000258385.8",
"protein_id": "ENSP00000258385.3",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 517,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "NM_000751.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.1192C>G",
"hgvs_p": "p.Arg398Gly",
"transcript": "NM_001256657.2",
"protein_id": "NP_001243586.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 502,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.1192C>G",
"hgvs_p": "p.Arg398Gly",
"transcript": "ENST00000543200.5",
"protein_id": "ENSP00000438380.1",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 502,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.934C>G",
"hgvs_p": "p.Arg312Gly",
"transcript": "NM_001311196.2",
"protein_id": "NP_001298125.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 416,
"cds_start": 934,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Arg219Gly",
"transcript": "NM_001311195.2",
"protein_id": "NP_001298124.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 323,
"cds_start": 655,
"cds_end": null,
"cds_length": 972,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2651,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "n.*419C>G",
"hgvs_p": null,
"transcript": "ENST00000441621.6",
"protein_id": "ENSP00000408819.2",
"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": 3022,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "n.*878C>G",
"hgvs_p": null,
"transcript": "ENST00000446616.1",
"protein_id": "ENSP00000410801.1",
"transcript_support_level": 3,
"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": 1580,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "n.*419C>G",
"hgvs_p": null,
"transcript": "ENST00000441621.6",
"protein_id": "ENSP00000408819.2",
"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": 3022,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "n.*878C>G",
"hgvs_p": null,
"transcript": "ENST00000446616.1",
"protein_id": "ENSP00000410801.1",
"transcript_support_level": 3,
"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": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"dbsnp": "rs1242056715",
"frequency_reference_population": 6.841115e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84112e-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": 0.5971776247024536,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.574,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2318,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.547,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": 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": "ENST00000258385.8",
"gene_symbol": "CHRND",
"hgnc_id": 1965,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1237C>G",
"hgvs_p": "p.Arg413Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}