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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: 16-23757315-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23757315&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23757315,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022097.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.529T>G",
"hgvs_p": "p.Phe177Val",
"transcript": "NM_022097.4",
"protein_id": "NP_071380.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 196,
"cds_start": 529,
"cds_end": null,
"cds_length": 591,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": "ENST00000300113.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022097.4"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.529T>G",
"hgvs_p": "p.Phe177Val",
"transcript": "ENST00000300113.3",
"protein_id": "ENSP00000300113.2",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 196,
"cds_start": 529,
"cds_end": null,
"cds_length": 591,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": "NM_022097.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300113.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.553T>G",
"hgvs_p": "p.Phe185Val",
"transcript": "ENST00000871596.1",
"protein_id": "ENSP00000541655.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 204,
"cds_start": 553,
"cds_end": null,
"cds_length": 615,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871596.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.526T>G",
"hgvs_p": "p.Phe176Val",
"transcript": "ENST00000871595.1",
"protein_id": "ENSP00000541654.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 195,
"cds_start": 526,
"cds_end": null,
"cds_length": 588,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871595.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.502T>G",
"hgvs_p": "p.Phe168Val",
"transcript": "ENST00000871594.1",
"protein_id": "ENSP00000541653.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 187,
"cds_start": 502,
"cds_end": null,
"cds_length": 564,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871594.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.448T>G",
"hgvs_p": "p.Phe150Val",
"transcript": "ENST00000871597.1",
"protein_id": "ENSP00000541656.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 169,
"cds_start": 448,
"cds_end": null,
"cds_length": 510,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871597.1"
}
],
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"dbsnp": "rs1202169650",
"frequency_reference_population": 6.856444e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85644e-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": 0.9715391397476196,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.592,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9581,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.606,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_022097.4",
"gene_symbol": "CHP2",
"hgnc_id": 24927,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.529T>G",
"hgvs_p": "p.Phe177Val"
}
],
"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
}