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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: 2-27627667-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27627667&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27627667,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001142683.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC121",
"gene_hgnc_id": 25833,
"hgvs_c": "c.133A>G",
"hgvs_p": "p.Asn45Asp",
"transcript": "NM_024584.5",
"protein_id": "NP_078860.2",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 278,
"cds_start": 133,
"cds_end": null,
"cds_length": 837,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": "ENST00000324364.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024584.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC121",
"gene_hgnc_id": 25833,
"hgvs_c": "c.133A>G",
"hgvs_p": "p.Asn45Asp",
"transcript": "ENST00000324364.4",
"protein_id": "ENSP00000339087.2",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 278,
"cds_start": 133,
"cds_end": null,
"cds_length": 837,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": "NM_024584.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324364.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC121",
"gene_hgnc_id": 25833,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Asn207Asp",
"transcript": "ENST00000394775.3",
"protein_id": "ENSP00000412150.2",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 440,
"cds_start": 619,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394775.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC121",
"gene_hgnc_id": 25833,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Asn207Asp",
"transcript": "NM_001142683.3",
"protein_id": "NP_001136155.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 440,
"cds_start": 619,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142683.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC121",
"gene_hgnc_id": 25833,
"hgvs_c": "c.133A>G",
"hgvs_p": "p.Asn45Asp",
"transcript": "ENST00000866112.1",
"protein_id": "ENSP00000536171.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 278,
"cds_start": 133,
"cds_end": null,
"cds_length": 837,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866112.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC121",
"gene_hgnc_id": 25833,
"hgvs_c": "c.133A>G",
"hgvs_p": "p.Asn45Asp",
"transcript": "ENST00000947586.1",
"protein_id": "ENSP00000617645.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 278,
"cds_start": 133,
"cds_end": null,
"cds_length": 837,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259080",
"gene_hgnc_id": null,
"hgvs_c": "n.1389-2192T>C",
"hgvs_p": null,
"transcript": "ENST00000505973.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000505973.1"
},
{
"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": "CCDC121",
"gene_hgnc_id": 25833,
"hgvs_c": "c.*193A>G",
"hgvs_p": null,
"transcript": "ENST00000522876.1",
"protein_id": "ENSP00000428530.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": null,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522876.1"
}
],
"gene_symbol": "CCDC121",
"gene_hgnc_id": 25833,
"dbsnp": "rs141619289",
"frequency_reference_population": 0.00013754425,
"hom_count_reference_population": 0,
"allele_count_reference_population": 222,
"gnomad_exomes_af": 0.000131349,
"gnomad_genomes_af": 0.000197024,
"gnomad_exomes_ac": 192,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.038471519947052,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.1101,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.055,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001142683.3",
"gene_symbol": "CCDC121",
"hgnc_id": 25833,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Asn207Asp"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000505973.1",
"gene_symbol": "ENSG00000259080",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1389-2192T>C",
"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
}