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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: 4-88408556-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=88408556&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 88408556,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000264346.12",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Asp436Gly",
"transcript": "NM_017912.4",
"protein_id": "NP_060382.3",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1307,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": "ENST00000264346.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Asp436Gly",
"transcript": "ENST00000264346.12",
"protein_id": "ENSP00000264346.8",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1307,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": "NM_017912.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Asp436Gly",
"transcript": "ENST00000380265.9",
"protein_id": "ENSP00000369617.5",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 986,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Asp436Gly",
"transcript": "NM_001165136.2",
"protein_id": "NP_001158608.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 986,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1343A>G",
"hgvs_p": "p.Asp448Gly",
"transcript": "XM_005263083.5",
"protein_id": "XP_005263140.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1343,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1343A>G",
"hgvs_p": "p.Asp448Gly",
"transcript": "XM_011532053.4",
"protein_id": "XP_011530355.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 998,
"cds_start": 1343,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Asp28Gly",
"transcript": "XM_047415866.1",
"protein_id": "XP_047271822.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 614,
"cds_start": 83,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1343A>G",
"hgvs_p": "p.Asp448Gly",
"transcript": "XM_047415867.1",
"protein_id": "XP_047271823.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 535,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"dbsnp": "rs571683231",
"frequency_reference_population": 0.000011245783,
"hom_count_reference_population": 1,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000897641,
"gnomad_genomes_af": 0.000032817,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28257232904434204,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3400000035762787,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.3375,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.884,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.34,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264346.12",
"gene_symbol": "HERC6",
"hgnc_id": 26072,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Asp436Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}