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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: 3-128968765-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128968765&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128968765,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000645291.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.*2460C>T",
"hgvs_p": null,
"transcript": "ENST00000265068.9",
"protein_id": "ENSP00000265068.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.1168+2522C>T",
"hgvs_p": null,
"transcript": "NM_001394090.1",
"protein_id": "NP_001381019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": -4,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": "ENST00000645291.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.1168+2522C>T",
"hgvs_p": null,
"transcript": "ENST00000645291.3",
"protein_id": "ENSP00000496592.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": -4,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": "NM_001394090.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.*2460C>T",
"hgvs_p": null,
"transcript": "NM_020741.3",
"protein_id": "NP_065792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.*2460C>T",
"hgvs_p": null,
"transcript": "NM_001348522.2",
"protein_id": "NP_001335451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.*2460C>T",
"hgvs_p": null,
"transcript": "NM_001348523.2",
"protein_id": "NP_001335452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.295+2522C>T",
"hgvs_p": null,
"transcript": "NM_001348520.2",
"protein_id": "NP_001335449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": -4,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.295+2522C>T",
"hgvs_p": null,
"transcript": "NM_001348521.2",
"protein_id": "NP_001335450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": -4,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.1168+2522C>T",
"hgvs_p": null,
"transcript": "ENST00000511438.5",
"protein_id": "ENSP00000426217.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.1264+2522C>T",
"hgvs_p": null,
"transcript": "XM_047448637.1",
"protein_id": "XP_047304593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1179,
"cds_start": -4,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.1264+2522C>T",
"hgvs_p": null,
"transcript": "XM_011513050.3",
"protein_id": "XP_011511352.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": -4,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.1264+2522C>T",
"hgvs_p": null,
"transcript": "XM_017006945.2",
"protein_id": "XP_016862434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": -4,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.1264+2522C>T",
"hgvs_p": null,
"transcript": "XM_047448638.1",
"protein_id": "XP_047304594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": -4,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.1264+2522C>T",
"hgvs_p": null,
"transcript": "XM_047448639.1",
"protein_id": "XP_047304595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": -4,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.577+2522C>T",
"hgvs_p": null,
"transcript": "XM_047448640.1",
"protein_id": "XP_047304596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": -4,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"dbsnp": "rs10512711",
"frequency_reference_population": 0.07222907,
"hom_count_reference_population": 1032,
"allele_count_reference_population": 11008,
"gnomad_exomes_af": 0.0172414,
"gnomad_genomes_af": 0.072271,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 11006,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1031,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.357,
"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": "ENST00000645291.3",
"gene_symbol": "CFAP92",
"hgnc_id": 29231,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1168+2522C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}