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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: 2-9452920-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9452920&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9452920,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001321836.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Glu",
"transcript": "NM_016207.4",
"protein_id": "NP_057291.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 684,
"cds_start": 1403,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": "ENST00000238112.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016207.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Glu",
"transcript": "ENST00000238112.8",
"protein_id": "ENSP00000238112.3",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 684,
"cds_start": 1403,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": "NM_016207.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238112.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Gly431Glu",
"transcript": "ENST00000460593.1",
"protein_id": "ENSP00000418957.1",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 647,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460593.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Gly468Glu",
"transcript": "ENST00000882814.1",
"protein_id": "ENSP00000552873.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 712,
"cds_start": 1403,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882814.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Gly472Glu",
"transcript": "NM_001321836.2",
"protein_id": "NP_001308765.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 688,
"cds_start": 1415,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321836.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Gly472Glu",
"transcript": "ENST00000947880.1",
"protein_id": "ENSP00000617939.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 688,
"cds_start": 1415,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947880.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Gly431Glu",
"transcript": "NM_001321833.2",
"protein_id": "NP_001308762.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 647,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321833.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Gly431Glu",
"transcript": "NM_001321834.2",
"protein_id": "NP_001308763.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 647,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321834.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Gly425Glu",
"transcript": "ENST00000921419.1",
"protein_id": "ENSP00000591478.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 641,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921419.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Gly419Glu",
"transcript": "ENST00000921418.1",
"protein_id": "ENSP00000591477.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 635,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921418.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Gly417Glu",
"transcript": "ENST00000882813.1",
"protein_id": "ENSP00000552872.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 633,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882813.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Gly415Glu",
"transcript": "ENST00000921420.1",
"protein_id": "ENSP00000591479.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 631,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921420.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Gly329Glu",
"transcript": "NM_001321835.2",
"protein_id": "NP_001308764.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 545,
"cds_start": 986,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321835.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1373G>A",
"hgvs_p": "p.Gly458Glu",
"transcript": "XM_047444745.1",
"protein_id": "XP_047300701.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 674,
"cds_start": 1373,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444745.1"
}
],
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"dbsnp": "rs765749321",
"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": 0.860217809677124,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.67,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9993,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.79,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001321836.2",
"gene_symbol": "CPSF3",
"hgnc_id": 2326,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Gly472Glu"
}
],
"clinvar_disease": " and seizures, microcephaly,Neurodevelopmental disorder with hypotonia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Neurodevelopmental disorder with hypotonia, microcephaly, and seizures",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}