← 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: 19-10113754-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10113754&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10113754,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001198690.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY11",
"gene_hgnc_id": 8540,
"hgvs_c": "c.141C>T",
"hgvs_p": "p.Gly47Gly",
"transcript": "NM_002566.5",
"protein_id": "NP_002557.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 374,
"cds_start": 141,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321826.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002566.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY11",
"gene_hgnc_id": 8540,
"hgvs_c": "c.141C>T",
"hgvs_p": "p.Gly47Gly",
"transcript": "ENST00000321826.5",
"protein_id": "ENSP00000323872.4",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 374,
"cds_start": 141,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002566.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321826.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPAN-P2RY11",
"gene_hgnc_id": 33526,
"hgvs_c": "c.1401C>T",
"hgvs_p": "p.Gly467Gly",
"transcript": "ENST00000393796.4",
"protein_id": "ENSP00000377385.4",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 794,
"cds_start": 1401,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393796.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPAN-P2RY11",
"gene_hgnc_id": 33526,
"hgvs_c": "c.1463C>T",
"hgvs_p": "p.Ala488Val",
"transcript": "NM_001198690.2",
"protein_id": "NP_001185619.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 520,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198690.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPAN-P2RY11",
"gene_hgnc_id": 33526,
"hgvs_c": "c.1463C>T",
"hgvs_p": "p.Ala488Val",
"transcript": "ENST00000428358.5",
"protein_id": "ENSP00000411918.1",
"transcript_support_level": 2,
"aa_start": 488,
"aa_end": null,
"aa_length": 520,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428358.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPAN-P2RY11",
"gene_hgnc_id": 33526,
"hgvs_c": "c.1401C>T",
"hgvs_p": "p.Gly467Gly",
"transcript": "NM_001040664.3",
"protein_id": "NP_001035754.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 794,
"cds_start": 1401,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040664.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY11",
"gene_hgnc_id": 8540,
"hgvs_c": "n.474C>T",
"hgvs_p": null,
"transcript": "ENST00000471843.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000471843.1"
}
],
"gene_symbol": "PPAN-P2RY11",
"gene_hgnc_id": 33526,
"dbsnp": "rs146352491",
"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": 0.05120617151260376,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.1324,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.112,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001198690.2",
"gene_symbol": "PPAN-P2RY11",
"hgnc_id": 33526,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1463C>T",
"hgvs_p": "p.Ala488Val"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002566.5",
"gene_symbol": "P2RY11",
"hgnc_id": 8540,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.141C>T",
"hgvs_p": "p.Gly47Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}