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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: 7-117718090-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=117718090&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 117718090,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033427.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4674G>C",
"hgvs_p": "p.Met1558Ile",
"transcript": "NM_033427.3",
"protein_id": "NP_219499.1",
"transcript_support_level": null,
"aa_start": 1558,
"aa_end": null,
"aa_length": 1663,
"cds_start": 4674,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000160373.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033427.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4674G>C",
"hgvs_p": "p.Met1558Ile",
"transcript": "ENST00000160373.8",
"protein_id": "ENSP00000160373.3",
"transcript_support_level": 1,
"aa_start": 1558,
"aa_end": null,
"aa_length": 1663,
"cds_start": 4674,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033427.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000160373.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4620G>C",
"hgvs_p": "p.Met1540Ile",
"transcript": "NM_001363349.1",
"protein_id": "NP_001350278.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4620,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363349.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.3135G>C",
"hgvs_p": "p.Met1045Ile",
"transcript": "ENST00000446636.5",
"protein_id": "ENSP00000389576.1",
"transcript_support_level": 5,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3135,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446636.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.2577G>C",
"hgvs_p": "p.Met859Ile",
"transcript": "NM_001363350.1",
"protein_id": "NP_001350279.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 964,
"cds_start": 2577,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363350.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.2577G>C",
"hgvs_p": "p.Met859Ile",
"transcript": "NM_001363351.1",
"protein_id": "NP_001350280.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 964,
"cds_start": 2577,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363351.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4620G>C",
"hgvs_p": "p.Met1540Ile",
"transcript": "XM_011516615.4",
"protein_id": "XP_011514917.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4620,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516615.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4548G>C",
"hgvs_p": "p.Met1516Ile",
"transcript": "XM_024446963.2",
"protein_id": "XP_024302731.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4548,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446963.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4548G>C",
"hgvs_p": "p.Met1516Ile",
"transcript": "XM_024446964.2",
"protein_id": "XP_024302732.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4548,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446964.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4674G>C",
"hgvs_p": "p.Met1558Ile",
"transcript": "XM_017012706.3",
"protein_id": "XP_016868195.1",
"transcript_support_level": null,
"aa_start": 1558,
"aa_end": null,
"aa_length": 1595,
"cds_start": 4674,
"cds_end": null,
"cds_length": 4788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.*2588G>C",
"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": null,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.*391G>C",
"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": null,
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.*2588G>C",
"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": null,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.*391G>C",
"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": null,
"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+2119C>G",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_927902.3"
}
],
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"dbsnp": "rs1355444319",
"frequency_reference_population": 0.0000013692703,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136927,
"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": 0.061521291732788086,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.1322,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.522,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_033427.3",
"gene_symbol": "CTTNBP2",
"hgnc_id": 15679,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4674G>C",
"hgvs_p": "p.Met1558Ile"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_927902.3",
"gene_symbol": "LOC105375469",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.89+2119C>G",
"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
}