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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: 7-117725172-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=117725172&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 117725172,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033427.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4141G>A",
"hgvs_p": "p.Gly1381Ser",
"transcript": "NM_033427.3",
"protein_id": "NP_219499.1",
"transcript_support_level": null,
"aa_start": 1381,
"aa_end": null,
"aa_length": 1663,
"cds_start": 4141,
"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": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4141G>A",
"hgvs_p": "p.Gly1381Ser",
"transcript": "ENST00000160373.8",
"protein_id": "ENSP00000160373.3",
"transcript_support_level": 1,
"aa_start": 1381,
"aa_end": null,
"aa_length": 1663,
"cds_start": 4141,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4087G>A",
"hgvs_p": "p.Gly1363Ser",
"transcript": "NM_001363349.1",
"protein_id": "NP_001350278.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4087,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Gly868Ser",
"transcript": "ENST00000446636.5",
"protein_id": "ENSP00000389576.1",
"transcript_support_level": 5,
"aa_start": 868,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2602,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.2044G>A",
"hgvs_p": "p.Gly682Ser",
"transcript": "NM_001363350.1",
"protein_id": "NP_001350279.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 964,
"cds_start": 2044,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.2044G>A",
"hgvs_p": "p.Gly682Ser",
"transcript": "NM_001363351.1",
"protein_id": "NP_001350280.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 964,
"cds_start": 2044,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4087G>A",
"hgvs_p": "p.Gly1363Ser",
"transcript": "XM_011516615.4",
"protein_id": "XP_011514917.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4087,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4015G>A",
"hgvs_p": "p.Gly1339Ser",
"transcript": "XM_024446963.2",
"protein_id": "XP_024302731.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4015,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4015G>A",
"hgvs_p": "p.Gly1339Ser",
"transcript": "XM_024446964.2",
"protein_id": "XP_024302732.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4015,
"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": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4141G>A",
"hgvs_p": "p.Gly1381Ser",
"transcript": "XM_017012706.3",
"protein_id": "XP_016868195.1",
"transcript_support_level": null,
"aa_start": 1381,
"aa_end": null,
"aa_length": 1595,
"cds_start": 4141,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "c.4056-440G>A",
"hgvs_p": null,
"transcript": "XM_047420933.1",
"protein_id": "XP_047276889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1358,
"cds_start": null,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420933.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.*2055G>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": 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": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.*2055G>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": 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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"hgvs_c": "n.120-440G>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": 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.90-4259C>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_927902.3"
}
],
"gene_symbol": "CTTNBP2",
"gene_hgnc_id": 15679,
"dbsnp": "rs753907443",
"frequency_reference_population": 0.000029743058,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000321557,
"gnomad_genomes_af": 0.00000657091,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06189018487930298,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.0719,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.151,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_033427.3",
"gene_symbol": "CTTNBP2",
"hgnc_id": 15679,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4141G>A",
"hgvs_p": "p.Gly1381Ser"
},
{
"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.90-4259C>T",
"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
}