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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: 5-138381576-GCG-CCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138381576&ref=GCG&alt=CCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "KDM3B",
"hgnc_id": 1337,
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_016604.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1761,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6724,
"cdna_start": 877,
"cds_end": null,
"cds_length": 5286,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016604.4",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000314358.10",
"protein_coding": true,
"protein_id": "NP_057688.3",
"strand": true,
"transcript": "NM_016604.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1761,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6724,
"cdna_start": 877,
"cds_end": null,
"cds_length": 5286,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000314358.10",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016604.4",
"protein_coding": true,
"protein_id": "ENSP00000326563.5",
"strand": true,
"transcript": "ENST00000314358.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6324,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000510866.5",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "n.574_576delGCGinsCCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000425186.1",
"strand": true,
"transcript": "ENST00000510866.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1760,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6722,
"cdna_start": 880,
"cds_end": null,
"cds_length": 5283,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938919.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608978.1",
"strand": true,
"transcript": "ENST00000938919.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1716,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6540,
"cdna_start": 827,
"cds_end": null,
"cds_length": 5151,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959876.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629935.1",
"strand": true,
"transcript": "ENST00000959876.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1705,
"aa_ref": "A",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6508,
"cdna_start": 663,
"cds_end": null,
"cds_length": 5118,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882289.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.598_600delGCGinsCCC",
"hgvs_p": "p.Ala200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552348.1",
"strand": true,
"transcript": "ENST00000882289.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6461,
"cdna_start": 881,
"cds_end": null,
"cds_length": 5019,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938918.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608977.1",
"strand": true,
"transcript": "ENST00000938918.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1561,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6127,
"cdna_start": 880,
"cds_end": null,
"cds_length": 4686,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882287.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552346.1",
"strand": true,
"transcript": "ENST00000882287.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1502,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5811,
"cdna_start": 830,
"cds_end": null,
"cds_length": 4509,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938922.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608981.1",
"strand": true,
"transcript": "ENST00000938922.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1296,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5329,
"cdna_start": 879,
"cds_end": null,
"cds_length": 3891,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938920.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608979.1",
"strand": true,
"transcript": "ENST00000938920.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4995,
"cdna_start": 830,
"cds_end": null,
"cds_length": 3606,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938921.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608980.1",
"strand": true,
"transcript": "ENST00000938921.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1717,
"aa_ref": "A",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6508,
"cdna_start": 661,
"cds_end": null,
"cds_length": 5154,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543488.3",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.634_636delGCGinsCCC",
"hgvs_p": "p.Ala212Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541790.1",
"strand": true,
"transcript": "XM_011543488.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1713,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8706,
"cdna_start": 2859,
"cds_end": null,
"cds_length": 5142,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543489.3",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.622_624delGCGinsCCC",
"hgvs_p": "p.Ala208Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541791.1",
"strand": true,
"transcript": "XM_011543489.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1713,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7628,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 5142,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417313.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.622_624delGCGinsCCC",
"hgvs_p": "p.Ala208Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273269.1",
"strand": true,
"transcript": "XM_047417313.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1561,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6124,
"cdna_start": 877,
"cds_end": null,
"cds_length": 4686,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005272018.5",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.766_768delGCGinsCCC",
"hgvs_p": "p.Ala256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272075.1",
"strand": true,
"transcript": "XM_005272018.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1512,
"aa_ref": "A",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6192,
"cdna_start": 345,
"cds_end": null,
"cds_length": 4539,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009584.2",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.19_21delGCGinsCCC",
"hgvs_p": "p.Ala7Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865073.1",
"strand": true,
"transcript": "XM_017009584.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1736,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6634,
"cdna_start": null,
"cds_end": null,
"cds_length": 5211,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882288.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "c.705+1868_705+1870delGCGinsCCC",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552347.1",
"strand": true,
"transcript": "ENST00000882288.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000512928.1",
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"hgvs_c": "n.455_457delGCGinsCCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000512928.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 1337,
"gene_symbol": "KDM3B",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.715,
"pos": 138381576,
"ref": "GCG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_016604.4"
}
]
}