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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: 16-84191528-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84191528&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84191528,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_139174.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD2",
"gene_hgnc_id": 30714,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Pro100Ser",
"transcript": "NM_001145400.2",
"protein_id": "NP_001138872.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 583,
"cds_start": 298,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315906.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145400.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD2",
"gene_hgnc_id": 30714,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Pro100Ser",
"transcript": "ENST00000315906.10",
"protein_id": "ENSP00000325153.6",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 583,
"cds_start": 298,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145400.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315906.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD2",
"gene_hgnc_id": 30714,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Pro100Ser",
"transcript": "NM_139174.4",
"protein_id": "NP_631913.3",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 665,
"cds_start": 298,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139174.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD2",
"gene_hgnc_id": 30714,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Pro100Ser",
"transcript": "ENST00000268624.7",
"protein_id": "ENSP00000268624.3",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 665,
"cds_start": 298,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268624.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD2",
"gene_hgnc_id": 30714,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Pro100Ser",
"transcript": "ENST00000922037.1",
"protein_id": "ENSP00000592096.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 655,
"cds_start": 298,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922037.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD2",
"gene_hgnc_id": 30714,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Pro100Ser",
"transcript": "ENST00000922036.1",
"protein_id": "ENSP00000592095.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 593,
"cds_start": 298,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922036.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD2",
"gene_hgnc_id": 30714,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Pro24Ser",
"transcript": "ENST00000567685.1",
"protein_id": "ENSP00000454950.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 265,
"cds_start": 70,
"cds_end": null,
"cds_length": 799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567685.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD2",
"gene_hgnc_id": 30714,
"hgvs_c": "n.338C>T",
"hgvs_p": null,
"transcript": "ENST00000567413.1",
"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": "ENST00000567413.1"
}
],
"gene_symbol": "ADAD2",
"gene_hgnc_id": 30714,
"dbsnp": "rs997900127",
"frequency_reference_population": 0.000014347038,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.000014347,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1416170299053192,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.0935,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.604,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139174.4",
"gene_symbol": "ADAD2",
"hgnc_id": 30714,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Pro100Ser"
}
],
"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
}