← 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: 15-89792557-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89792557&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89792557,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000300060.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANPEP",
"gene_hgnc_id": 500,
"hgvs_c": "c.2255G>A",
"hgvs_p": "p.Ser752Asn",
"transcript": "NM_001150.3",
"protein_id": "NP_001141.2",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 967,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2559,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": "ENST00000300060.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANPEP",
"gene_hgnc_id": 500,
"hgvs_c": "c.2255G>A",
"hgvs_p": "p.Ser752Asn",
"transcript": "ENST00000300060.7",
"protein_id": "ENSP00000300060.6",
"transcript_support_level": 1,
"aa_start": 752,
"aa_end": null,
"aa_length": 967,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2559,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": "NM_001150.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANPEP",
"gene_hgnc_id": 500,
"hgvs_c": "c.2255G>A",
"hgvs_p": "p.Ser752Asn",
"transcript": "NM_001381923.1",
"protein_id": "NP_001368852.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 967,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2562,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANPEP",
"gene_hgnc_id": 500,
"hgvs_c": "c.2255G>A",
"hgvs_p": "p.Ser752Asn",
"transcript": "NM_001381924.1",
"protein_id": "NP_001368853.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 967,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANPEP",
"gene_hgnc_id": 500,
"hgvs_c": "c.2255G>A",
"hgvs_p": "p.Ser752Asn",
"transcript": "ENST00000559874.2",
"protein_id": "ENSP00000452934.2",
"transcript_support_level": 3,
"aa_start": 752,
"aa_end": null,
"aa_length": 967,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2607,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANPEP",
"gene_hgnc_id": 500,
"hgvs_c": "c.2255G>A",
"hgvs_p": "p.Ser752Asn",
"transcript": "ENST00000560137.2",
"protein_id": "ENSP00000453413.2",
"transcript_support_level": 3,
"aa_start": 752,
"aa_end": null,
"aa_length": 967,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2710,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANPEP",
"gene_hgnc_id": 500,
"hgvs_c": "c.2255G>A",
"hgvs_p": "p.Ser752Asn",
"transcript": "ENST00000679248.1",
"protein_id": "ENSP00000502886.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 967,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANPEP",
"gene_hgnc_id": 500,
"hgvs_c": "n.159G>A",
"hgvs_p": null,
"transcript": "ENST00000558740.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANPEP",
"gene_hgnc_id": 500,
"dbsnp": "rs25651",
"frequency_reference_population": 0.3194491,
"hom_count_reference_population": 84996,
"allele_count_reference_population": 515150,
"gnomad_exomes_af": 0.316078,
"gnomad_genomes_af": 0.351839,
"gnomad_exomes_ac": 461669,
"gnomad_genomes_ac": 53481,
"gnomad_exomes_homalt": 74840,
"gnomad_genomes_homalt": 10156,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00003111991463811137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.1069,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.094,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000300060.7",
"gene_symbol": "ANPEP",
"hgnc_id": 500,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2255G>A",
"hgvs_p": "p.Ser752Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}