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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: 14-59531787-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=59531787&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 59531787,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001164399.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1747A>C",
"hgvs_p": "p.Ser583Arg",
"transcript": "NM_001164399.2",
"protein_id": "NP_001157871.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 793,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": "ENST00000537690.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1747A>C",
"hgvs_p": "p.Ser583Arg",
"transcript": "ENST00000537690.7",
"protein_id": "ENSP00000453940.1",
"transcript_support_level": 5,
"aa_start": 583,
"aa_end": null,
"aa_length": 793,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": "NM_001164399.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1747A>C",
"hgvs_p": "p.Ser583Arg",
"transcript": "ENST00000281581.5",
"protein_id": "ENSP00000452964.1",
"transcript_support_level": 5,
"aa_start": 583,
"aa_end": null,
"aa_length": 828,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1747A>C",
"hgvs_p": "p.Ser583Arg",
"transcript": "XM_011537120.4",
"protein_id": "XP_011535422.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 794,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1747A>C",
"hgvs_p": "p.Ser583Arg",
"transcript": "XM_011537125.3",
"protein_id": "XP_011535427.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 646,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1195A>C",
"hgvs_p": "p.Ser399Arg",
"transcript": "XM_047431746.1",
"protein_id": "XP_047287702.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 610,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1195A>C",
"hgvs_p": "p.Ser399Arg",
"transcript": "XM_047431747.1",
"protein_id": "XP_047287703.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 610,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2589,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1747A>C",
"hgvs_p": "p.Ser583Arg",
"transcript": "XM_047431748.1",
"protein_id": "XP_047287704.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 609,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1747A>C",
"hgvs_p": "p.Ser583Arg",
"transcript": "XM_047431749.1",
"protein_id": "XP_047287705.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 594,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 1896,
"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": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1623+6236A>C",
"hgvs_p": null,
"transcript": "XM_011537122.4",
"protein_id": "XP_011535424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": -4,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2372,
"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1623+6236A>C",
"hgvs_p": null,
"transcript": "XM_011537124.4",
"protein_id": "XP_011535426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": -4,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.*132A>C",
"hgvs_p": null,
"transcript": "XM_047431750.1",
"protein_id": "XP_047287706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": -4,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"dbsnp": "rs1310565217",
"frequency_reference_population": 0.000005949123,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000594912,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06475833058357239,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.2529,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.935,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_001164399.2",
"gene_symbol": "CCDC175",
"hgnc_id": 19847,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1747A>C",
"hgvs_p": "p.Ser583Arg"
}
],
"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
}