← Back to variant description
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: 16-23756076-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23756076&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23756076,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022097.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.235G>T",
"hgvs_p": "p.Asp79Tyr",
"transcript": "NM_022097.4",
"protein_id": "NP_071380.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 196,
"cds_start": 235,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300113.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022097.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.235G>T",
"hgvs_p": "p.Asp79Tyr",
"transcript": "ENST00000300113.3",
"protein_id": "ENSP00000300113.2",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 196,
"cds_start": 235,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022097.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300113.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.235G>T",
"hgvs_p": "p.Asp79Tyr",
"transcript": "ENST00000871596.1",
"protein_id": "ENSP00000541655.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 204,
"cds_start": 235,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871596.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.232G>T",
"hgvs_p": "p.Asp78Tyr",
"transcript": "ENST00000871595.1",
"protein_id": "ENSP00000541654.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 195,
"cds_start": 232,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871595.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.235G>T",
"hgvs_p": "p.Asp79Tyr",
"transcript": "ENST00000871594.1",
"protein_id": "ENSP00000541653.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 187,
"cds_start": 235,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871594.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"hgvs_c": "c.154G>T",
"hgvs_p": "p.Asp52Tyr",
"transcript": "ENST00000871597.1",
"protein_id": "ENSP00000541656.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 169,
"cds_start": 154,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000279756",
"gene_hgnc_id": null,
"hgvs_c": "n.-137C>A",
"hgvs_p": null,
"transcript": "ENST00000623305.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "TEC",
"feature": "ENST00000623305.1"
}
],
"gene_symbol": "CHP2",
"gene_hgnc_id": 24927,
"dbsnp": "rs1961220062",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5322561860084534,
"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": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.4199,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.938,
"phylop100way_prediction": "Benign",
"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": "NM_022097.4",
"gene_symbol": "CHP2",
"hgnc_id": 24927,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.235G>T",
"hgvs_p": "p.Asp79Tyr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000623305.1",
"gene_symbol": "ENSG00000279756",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-137C>A",
"hgvs_p": null
}
],
"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
}