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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: 15-28192099-GT-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=28192099&ref=GT&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "HERC2",
"hgnc_id": 4868,
"hgvs_c": "c.8312_8313delACinsCA",
"hgvs_p": "p.His2771Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004667.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"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": 4834,
"aa_ref": "H",
"aa_start": 2771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15364,
"cdna_start": 8449,
"cds_end": null,
"cds_length": 14505,
"cds_start": 8312,
"consequences": [
"missense_variant"
],
"exon_count": 93,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004667.6",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.8312_8313delACinsCA",
"hgvs_p": "p.His2771Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261609.13",
"protein_coding": true,
"protein_id": "NP_004658.3",
"strand": false,
"transcript": "NM_004667.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 4834,
"aa_ref": "H",
"aa_start": 2771,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15364,
"cdna_start": 8449,
"cds_end": null,
"cds_length": 14505,
"cds_start": 8312,
"consequences": [
"missense_variant"
],
"exon_count": 93,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261609.13",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.8312_8313delACinsCA",
"hgvs_p": "p.His2771Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004667.6",
"protein_coding": true,
"protein_id": "ENSP00000261609.8",
"strand": false,
"transcript": "ENST00000261609.13",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 4829,
"aa_ref": "H",
"aa_start": 2766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15349,
"cdna_start": 8434,
"cds_end": null,
"cds_length": 14490,
"cds_start": 8297,
"consequences": [
"missense_variant"
],
"exon_count": 93,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720726.4",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.8297_8298delACinsCA",
"hgvs_p": "p.His2766Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720789.1",
"strand": false,
"transcript": "XM_006720726.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 4825,
"aa_ref": "H",
"aa_start": 2762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15207,
"cdna_start": 8292,
"cds_end": null,
"cds_length": 14478,
"cds_start": 8285,
"consequences": [
"missense_variant"
],
"exon_count": 92,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433206.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.8285_8286delACinsCA",
"hgvs_p": "p.His2762Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289162.1",
"strand": false,
"transcript": "XM_047433206.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 4796,
"aa_ref": "H",
"aa_start": 2733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15476,
"cdna_start": 8561,
"cds_end": null,
"cds_length": 14391,
"cds_start": 8198,
"consequences": [
"missense_variant"
],
"exon_count": 92,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005268276.6",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.8198_8199delACinsCA",
"hgvs_p": "p.His2733Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268333.1",
"strand": false,
"transcript": "XM_005268276.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 4796,
"aa_ref": "H",
"aa_start": 2733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15284,
"cdna_start": 8369,
"cds_end": null,
"cds_length": 14391,
"cds_start": 8198,
"consequences": [
"missense_variant"
],
"exon_count": 92,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017022695.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.8198_8199delACinsCA",
"hgvs_p": "p.His2733Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878184.1",
"strand": false,
"transcript": "XM_017022695.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 4796,
"aa_ref": "H",
"aa_start": 2733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15181,
"cdna_start": 8266,
"cds_end": null,
"cds_length": 14391,
"cds_start": 8198,
"consequences": [
"missense_variant"
],
"exon_count": 92,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017022696.2",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.8198_8199delACinsCA",
"hgvs_p": "p.His2733Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878185.1",
"strand": false,
"transcript": "XM_017022696.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 4748,
"aa_ref": "H",
"aa_start": 2685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15106,
"cdna_start": 8191,
"cds_end": null,
"cds_length": 14247,
"cds_start": 8054,
"consequences": [
"missense_variant"
],
"exon_count": 91,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720727.4",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.8054_8055delACinsCA",
"hgvs_p": "p.His2685Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720790.1",
"strand": false,
"transcript": "XM_006720727.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 4673,
"aa_ref": "H",
"aa_start": 2610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14843,
"cdna_start": 7928,
"cds_end": null,
"cds_length": 14022,
"cds_start": 7829,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433207.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.7829_7830delACinsCA",
"hgvs_p": "p.His2610Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289163.1",
"strand": false,
"transcript": "XM_047433207.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3084,
"aa_ref": "H",
"aa_start": 2771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9531,
"cdna_start": 8449,
"cds_end": null,
"cds_length": 9255,
"cds_start": 8312,
"consequences": [
"missense_variant"
],
"exon_count": 61,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433208.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.8312_8313delACinsCA",
"hgvs_p": "p.His2771Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289164.1",
"strand": false,
"transcript": "XM_047433208.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2556,
"aa_ref": "H",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8667,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 7671,
"cds_start": 1478,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017022697.2",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.1478_1479delACinsCA",
"hgvs_p": "p.His493Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878186.1",
"strand": false,
"transcript": "XM_017022697.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2556,
"aa_ref": "H",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8580,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 7671,
"cds_start": 1478,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017022698.2",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "c.1478_1479delACinsCA",
"hgvs_p": "p.His493Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878187.1",
"strand": false,
"transcript": "XM_017022698.2",
"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": 3523,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000567869.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "n.2422_2423delACinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000567869.1",
"transcript_support_level": 2
},
{
"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": 6668,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000650509.1",
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"hgvs_c": "n.23_24delACinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496936.1",
"strand": false,
"transcript": "ENST00000650509.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4868,
"gene_symbol": "HERC2",
"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": "Benign",
"phylop100way_score": 3.431,
"pos": 28192099,
"ref": "GT",
"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_004667.6"
}
]
}