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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: 22-37566632-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37566632&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37566632,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152243.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser",
"transcript": "NM_152243.3",
"protein_id": "NP_689449.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 391,
"cds_start": 283,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": "ENST00000249014.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152243.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser",
"transcript": "ENST00000249014.5",
"protein_id": "ENSP00000249014.4",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 391,
"cds_start": 283,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": "NM_152243.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249014.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser",
"transcript": "ENST00000897681.1",
"protein_id": "ENSP00000567740.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 391,
"cds_start": 283,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897681.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser",
"transcript": "ENST00000897682.1",
"protein_id": "ENSP00000567741.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 391,
"cds_start": 283,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897682.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser",
"transcript": "ENST00000897683.1",
"protein_id": "ENSP00000567742.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 391,
"cds_start": 283,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897683.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser",
"transcript": "ENST00000897684.1",
"protein_id": "ENSP00000567743.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 391,
"cds_start": 283,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897684.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser",
"transcript": "ENST00000897685.1",
"protein_id": "ENSP00000567744.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 391,
"cds_start": 283,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897685.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser",
"transcript": "ENST00000897686.1",
"protein_id": "ENSP00000567745.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 391,
"cds_start": 283,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897686.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser",
"transcript": "ENST00000913122.1",
"protein_id": "ENSP00000583181.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 391,
"cds_start": 283,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913122.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.*73C>T",
"hgvs_p": null,
"transcript": "ENST00000430687.1",
"protein_id": "ENSP00000411682.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": null,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430687.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.*102C>T",
"hgvs_p": null,
"transcript": "ENST00000415670.1",
"protein_id": "ENSP00000405006.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"hgvs_c": "c.*137C>T",
"hgvs_p": null,
"transcript": "ENST00000434728.1",
"protein_id": "ENSP00000403710.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434728.1"
}
],
"gene_symbol": "CDC42EP1",
"gene_hgnc_id": 17014,
"dbsnp": "rs751206521",
"frequency_reference_population": 0.000019491756,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000208569,
"gnomad_genomes_af": 0.00000657696,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08756116032600403,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.0773,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.546,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_152243.3",
"gene_symbol": "CDC42EP1",
"hgnc_id": 17014,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Pro95Ser"
}
],
"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
}