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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: 3-14714110-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14714110&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 14714110,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000253697.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.1264C>A",
"hgvs_p": "p.Leu422Ile",
"transcript": "NM_032137.5",
"protein_id": "NP_115513.4",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 904,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": "ENST00000253697.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.1264C>A",
"hgvs_p": "p.Leu422Ile",
"transcript": "ENST00000253697.8",
"protein_id": "ENSP00000253697.3",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 904,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": "NM_032137.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.898C>A",
"hgvs_p": "p.Leu300Ile",
"transcript": "ENST00000412910.1",
"protein_id": "ENSP00000396081.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 782,
"cds_start": 898,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.898C>A",
"hgvs_p": "p.Leu300Ile",
"transcript": "ENST00000435614.5",
"protein_id": "ENSP00000402933.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 782,
"cds_start": 898,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.898C>A",
"hgvs_p": "p.Leu300Ile",
"transcript": "NM_001184957.2",
"protein_id": "NP_001171886.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 782,
"cds_start": 898,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.898C>A",
"hgvs_p": "p.Leu300Ile",
"transcript": "NM_001184958.2",
"protein_id": "NP_001171887.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 782,
"cds_start": 898,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.1264C>A",
"hgvs_p": "p.Leu422Ile",
"transcript": "XM_006713341.3",
"protein_id": "XP_006713404.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 947,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.1264C>A",
"hgvs_p": "p.Leu422Ile",
"transcript": "XM_006713342.2",
"protein_id": "XP_006713405.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 947,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.1264C>A",
"hgvs_p": "p.Leu422Ile",
"transcript": "XM_011534153.4",
"protein_id": "XP_011532455.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 947,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 3478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.898C>A",
"hgvs_p": "p.Leu300Ile",
"transcript": "XM_011534154.4",
"protein_id": "XP_011532456.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 825,
"cds_start": 898,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.1264C>A",
"hgvs_p": "p.Leu422Ile",
"transcript": "XM_006713343.3",
"protein_id": "XP_006713406.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 669,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Leu118Ile",
"transcript": "XM_011534157.3",
"protein_id": "XP_011532459.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 643,
"cds_start": 352,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.1264C>A",
"hgvs_p": "p.Leu422Ile",
"transcript": "XM_017007310.2",
"protein_id": "XP_016862799.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 562,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "c.1264C>A",
"hgvs_p": "p.Leu422Ile",
"transcript": "XM_011534158.3",
"protein_id": "XP_011532460.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 542,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"hgvs_c": "n.368C>A",
"hgvs_p": null,
"transcript": "ENST00000495387.1",
"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": 836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C3orf20",
"gene_hgnc_id": 25320,
"dbsnp": "rs6790129",
"frequency_reference_population": 0.000024788615,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000253131,
"gnomad_genomes_af": 0.0000197431,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17576062679290771,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.0941,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.079,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000253697.8",
"gene_symbol": "C3orf20",
"hgnc_id": 25320,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1264C>A",
"hgvs_p": "p.Leu422Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}