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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: 4-103110950-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=103110950&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 103110950,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000265148.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7602C>A",
"hgvs_p": "p.Ser2534Arg",
"transcript": "NM_001813.3",
"protein_id": "NP_001804.2",
"transcript_support_level": null,
"aa_start": 2534,
"aa_end": null,
"aa_length": 2701,
"cds_start": 7602,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 7626,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": "ENST00000265148.9",
"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": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7602C>A",
"hgvs_p": "p.Ser2534Arg",
"transcript": "ENST00000265148.9",
"protein_id": "ENSP00000265148.3",
"transcript_support_level": 2,
"aa_start": 2534,
"aa_end": null,
"aa_length": 2701,
"cds_start": 7602,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 7626,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": "NM_001813.3",
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7239C>A",
"hgvs_p": "p.Ser2413Arg",
"transcript": "ENST00000380026.8",
"protein_id": "ENSP00000369365.3",
"transcript_support_level": 1,
"aa_start": 2413,
"aa_end": null,
"aa_length": 2580,
"cds_start": 7239,
"cds_end": null,
"cds_length": 7743,
"cdna_start": 7365,
"cdna_end": null,
"cdna_length": 8742,
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7239C>A",
"hgvs_p": "p.Ser2413Arg",
"transcript": "NM_001286734.2",
"protein_id": "NP_001273663.1",
"transcript_support_level": null,
"aa_start": 2413,
"aa_end": null,
"aa_length": 2580,
"cds_start": 7239,
"cds_end": null,
"cds_length": 7743,
"cdna_start": 7263,
"cdna_end": null,
"cdna_length": 8178,
"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": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7527C>A",
"hgvs_p": "p.Ser2509Arg",
"transcript": "XM_011531544.3",
"protein_id": "XP_011529846.1",
"transcript_support_level": null,
"aa_start": 2509,
"aa_end": null,
"aa_length": 2676,
"cds_start": 7527,
"cds_end": null,
"cds_length": 8031,
"cdna_start": 7551,
"cdna_end": null,
"cdna_length": 8466,
"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": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7443C>A",
"hgvs_p": "p.Ser2481Arg",
"transcript": "XM_011531545.3",
"protein_id": "XP_011529847.1",
"transcript_support_level": null,
"aa_start": 2481,
"aa_end": null,
"aa_length": 2648,
"cds_start": 7443,
"cds_end": null,
"cds_length": 7947,
"cdna_start": 7467,
"cdna_end": null,
"cdna_length": 8382,
"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": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7398C>A",
"hgvs_p": "p.Ser2466Arg",
"transcript": "XM_011531546.4",
"protein_id": "XP_011529848.1",
"transcript_support_level": null,
"aa_start": 2466,
"aa_end": null,
"aa_length": 2633,
"cds_start": 7398,
"cds_end": null,
"cds_length": 7902,
"cdna_start": 7422,
"cdna_end": null,
"cdna_length": 8337,
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7368C>A",
"hgvs_p": "p.Ser2456Arg",
"transcript": "XM_047449533.1",
"protein_id": "XP_047305489.1",
"transcript_support_level": null,
"aa_start": 2456,
"aa_end": null,
"aa_length": 2623,
"cds_start": 7368,
"cds_end": null,
"cds_length": 7872,
"cdna_start": 7392,
"cdna_end": null,
"cdna_length": 8307,
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7323C>A",
"hgvs_p": "p.Ser2441Arg",
"transcript": "XM_047449534.1",
"protein_id": "XP_047305490.1",
"transcript_support_level": null,
"aa_start": 2441,
"aa_end": null,
"aa_length": 2608,
"cds_start": 7323,
"cds_end": null,
"cds_length": 7827,
"cdna_start": 7347,
"cdna_end": null,
"cdna_length": 8262,
"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": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7314C>A",
"hgvs_p": "p.Ser2438Arg",
"transcript": "XM_011531547.3",
"protein_id": "XP_011529849.1",
"transcript_support_level": null,
"aa_start": 2438,
"aa_end": null,
"aa_length": 2605,
"cds_start": 7314,
"cds_end": null,
"cds_length": 7818,
"cdna_start": 7338,
"cdna_end": null,
"cdna_length": 8253,
"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": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7311C>A",
"hgvs_p": "p.Ser2437Arg",
"transcript": "XM_011531548.3",
"protein_id": "XP_011529850.1",
"transcript_support_level": null,
"aa_start": 2437,
"aa_end": null,
"aa_length": 2604,
"cds_start": 7311,
"cds_end": null,
"cds_length": 7815,
"cdna_start": 7335,
"cdna_end": null,
"cdna_length": 8250,
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7239C>A",
"hgvs_p": "p.Ser2413Arg",
"transcript": "XM_047449535.1",
"protein_id": "XP_047305491.1",
"transcript_support_level": null,
"aa_start": 2413,
"aa_end": null,
"aa_length": 2580,
"cds_start": 7239,
"cds_end": null,
"cds_length": 7743,
"cdna_start": 7263,
"cdna_end": null,
"cdna_length": 8178,
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7236C>A",
"hgvs_p": "p.Ser2412Arg",
"transcript": "XM_047449536.1",
"protein_id": "XP_047305492.1",
"transcript_support_level": null,
"aa_start": 2412,
"aa_end": null,
"aa_length": 2579,
"cds_start": 7236,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 7260,
"cdna_end": null,
"cdna_length": 8175,
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7158C>A",
"hgvs_p": "p.Ser2386Arg",
"transcript": "XM_011531549.3",
"protein_id": "XP_011529851.1",
"transcript_support_level": null,
"aa_start": 2386,
"aa_end": null,
"aa_length": 2553,
"cds_start": 7158,
"cds_end": null,
"cds_length": 7662,
"cdna_start": 7182,
"cdna_end": null,
"cdna_length": 8097,
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7155C>A",
"hgvs_p": "p.Ser2385Arg",
"transcript": "XM_047449538.1",
"protein_id": "XP_047305494.1",
"transcript_support_level": null,
"aa_start": 2385,
"aa_end": null,
"aa_length": 2552,
"cds_start": 7155,
"cds_end": null,
"cds_length": 7659,
"cdna_start": 7179,
"cdna_end": null,
"cdna_length": 8094,
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7152C>A",
"hgvs_p": "p.Ser2384Arg",
"transcript": "XM_017007659.2",
"protein_id": "XP_016863148.1",
"transcript_support_level": null,
"aa_start": 2384,
"aa_end": null,
"aa_length": 2551,
"cds_start": 7152,
"cds_end": null,
"cds_length": 7656,
"cdna_start": 7176,
"cdna_end": null,
"cdna_length": 8091,
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7110C>A",
"hgvs_p": "p.Ser2370Arg",
"transcript": "XM_047449539.1",
"protein_id": "XP_047305495.1",
"transcript_support_level": null,
"aa_start": 2370,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7110,
"cds_end": null,
"cds_length": 7614,
"cdna_start": 7134,
"cdna_end": null,
"cdna_length": 8049,
"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": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7107C>A",
"hgvs_p": "p.Ser2369Arg",
"transcript": "XM_047449540.1",
"protein_id": "XP_047305496.1",
"transcript_support_level": null,
"aa_start": 2369,
"aa_end": null,
"aa_length": 2536,
"cds_start": 7107,
"cds_end": null,
"cds_length": 7611,
"cdna_start": 7131,
"cdna_end": null,
"cdna_length": 8046,
"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": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"hgvs_c": "c.7077C>A",
"hgvs_p": "p.Ser2359Arg",
"transcript": "XM_047449541.1",
"protein_id": "XP_047305497.1",
"transcript_support_level": null,
"aa_start": 2359,
"aa_end": null,
"aa_length": 2526,
"cds_start": 7077,
"cds_end": null,
"cds_length": 7581,
"cdna_start": 7101,
"cdna_end": null,
"cdna_length": 8016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CENPE",
"gene_hgnc_id": 1856,
"dbsnp": "rs148582447",
"frequency_reference_population": 6.8577793e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85778e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22479969263076782,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9829,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.811,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000265148.9",
"gene_symbol": "CENPE",
"hgnc_id": 1856,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.7602C>A",
"hgvs_p": "p.Ser2534Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}