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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: 7-117719532-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=117719532&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 117719532,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033427.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4616C>A",
"hgvs_p": "p.Ser1539Tyr",
"transcript": "NM_033427.3",
"protein_id": "NP_219499.1",
"transcript_support_level": null,
"aa_start": 1539,
"aa_end": null,
"aa_length": 1663,
"cds_start": 4616,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 4642,
"cdna_end": null,
"cdna_length": 5904,
"mane_select": "ENST00000160373.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033427.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4616C>A",
"hgvs_p": "p.Ser1539Tyr",
"transcript": "ENST00000160373.8",
"protein_id": "ENSP00000160373.3",
"transcript_support_level": 1,
"aa_start": 1539,
"aa_end": null,
"aa_length": 1663,
"cds_start": 4616,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 4642,
"cdna_end": null,
"cdna_length": 5904,
"mane_select": "NM_033427.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000160373.8"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4562C>A",
"hgvs_p": "p.Ser1521Tyr",
"transcript": "NM_001363349.1",
"protein_id": "NP_001350278.1",
"transcript_support_level": null,
"aa_start": 1521,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4562,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 4846,
"cdna_end": null,
"cdna_length": 6108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363349.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.3077C>A",
"hgvs_p": "p.Ser1026Tyr",
"transcript": "ENST00000446636.5",
"protein_id": "ENSP00000389576.1",
"transcript_support_level": 5,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3078,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446636.5"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.2519C>A",
"hgvs_p": "p.Ser840Tyr",
"transcript": "NM_001363350.1",
"protein_id": "NP_001350279.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 964,
"cds_start": 2519,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 4489,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363350.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.2519C>A",
"hgvs_p": "p.Ser840Tyr",
"transcript": "NM_001363351.1",
"protein_id": "NP_001350280.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 964,
"cds_start": 2519,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 4479,
"cdna_end": null,
"cdna_length": 5741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363351.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4562C>A",
"hgvs_p": "p.Ser1521Tyr",
"transcript": "XM_011516615.4",
"protein_id": "XP_011514917.1",
"transcript_support_level": null,
"aa_start": 1521,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4562,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 7010,
"cdna_end": null,
"cdna_length": 8272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516615.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4490C>A",
"hgvs_p": "p.Ser1497Tyr",
"transcript": "XM_024446963.2",
"protein_id": "XP_024302731.1",
"transcript_support_level": null,
"aa_start": 1497,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4490,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 4652,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446963.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4490C>A",
"hgvs_p": "p.Ser1497Tyr",
"transcript": "XM_024446964.2",
"protein_id": "XP_024302732.1",
"transcript_support_level": null,
"aa_start": 1497,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4490,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 4693,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446964.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4616C>A",
"hgvs_p": "p.Ser1539Tyr",
"transcript": "XM_017012706.3",
"protein_id": "XP_016868195.1",
"transcript_support_level": null,
"aa_start": 1539,
"aa_end": null,
"aa_length": 1595,
"cds_start": 4616,
"cds_end": null,
"cds_length": 4788,
"cdna_start": 4642,
"cdna_end": null,
"cdna_length": 6287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012706.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.*2530C>A",
"hgvs_p": null,
"transcript": "ENST00000441556.5",
"protein_id": "ENSP00000397678.1",
"transcript_support_level": 5,
"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": 5517,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000441556.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.*333C>A",
"hgvs_p": null,
"transcript": "ENST00000445366.1",
"protein_id": "ENSP00000389491.1",
"transcript_support_level": 5,
"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": 760,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.*2530C>A",
"hgvs_p": null,
"transcript": "ENST00000441556.5",
"protein_id": "ENSP00000397678.1",
"transcript_support_level": 5,
"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": 5517,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000441556.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.*333C>A",
"hgvs_p": null,
"transcript": "ENST00000445366.1",
"protein_id": "ENSP00000389491.1",
"transcript_support_level": 5,
"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": 760,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445366.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105375469",
"gene_hgnc_id": null,
"hgvs_c": "n.89+3561G>T",
"hgvs_p": null,
"transcript": "XR_927902.3",
"protein_id": null,
"transcript_support_level": null,
"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": 597,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_927902.3"
}
],
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"dbsnp": "rs770393389",
"frequency_reference_population": 0.0000013683373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136834,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6864434480667114,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.36,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1904,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.113,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033427.3",
"gene_symbol": "CTTNBP2",
"hgnc_id": 15679,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4616C>A",
"hgvs_p": "p.Ser1539Tyr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_927902.3",
"gene_symbol": "LOC105375469",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.89+3561G>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
}