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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: 18-23194449-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23194449&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23194449,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000256925.12",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.919T>A",
"hgvs_p": "p.Cys307Ser",
"transcript": "NM_001100619.3",
"protein_id": "NP_001094089.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 633,
"cds_start": 919,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 5283,
"mane_select": "ENST00000256925.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.919T>A",
"hgvs_p": "p.Cys307Ser",
"transcript": "ENST00000256925.12",
"protein_id": "ENSP00000256925.7",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 633,
"cds_start": 919,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 5283,
"mane_select": "NM_001100619.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.124T>A",
"hgvs_p": "p.Cys42Ser",
"transcript": "ENST00000420687.2",
"protein_id": "ENSP00000413851.2",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 368,
"cds_start": 124,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.124T>A",
"hgvs_p": "p.Cys42Ser",
"transcript": "NM_138375.3",
"protein_id": "NP_612384.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 368,
"cds_start": 124,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.-63T>A",
"hgvs_p": null,
"transcript": "NM_001256438.1",
"protein_id": "NP_001243367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.-63T>A",
"hgvs_p": null,
"transcript": "ENST00000400473.6",
"protein_id": "ENSP00000383321.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.256T>A",
"hgvs_p": "p.Cys86Ser",
"transcript": "ENST00000582882.5",
"protein_id": "ENSP00000476575.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 162,
"cds_start": 256,
"cds_end": null,
"cds_length": 489,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.-63T>A",
"hgvs_p": null,
"transcript": "ENST00000580153.5",
"protein_id": "ENSP00000461994.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 8,
"cds_start": -4,
"cds_end": null,
"cds_length": 29,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "n.-63T>A",
"hgvs_p": null,
"transcript": "ENST00000579963.5",
"protein_id": "ENSP00000464435.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "n.223T>A",
"hgvs_p": null,
"transcript": "ENST00000583220.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "n.162T>A",
"hgvs_p": null,
"transcript": "NR_023359.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.-63T>A",
"hgvs_p": null,
"transcript": "NM_001256438.1",
"protein_id": "NP_001243367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.-63T>A",
"hgvs_p": null,
"transcript": "ENST00000400473.6",
"protein_id": "ENSP00000383321.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "c.-63T>A",
"hgvs_p": null,
"transcript": "ENST00000580153.5",
"protein_id": "ENSP00000461994.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 8,
"cds_start": -4,
"cds_end": null,
"cds_length": 29,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "n.-63T>A",
"hgvs_p": null,
"transcript": "ENST00000579963.5",
"protein_id": "ENSP00000464435.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"hgvs_c": "n.339+5540T>A",
"hgvs_p": null,
"transcript": "ENST00000585061.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CABLES1",
"gene_hgnc_id": 25097,
"dbsnp": "rs11660370",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.738085150718689,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.46000000834465027,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.382,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9235,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.443,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.3,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.366155263612489,
"dbscsnv_ada_prediction": "Benign",
"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": "ENST00000256925.12",
"gene_symbol": "CABLES1",
"hgnc_id": 25097,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.919T>A",
"hgvs_p": "p.Cys307Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}