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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: 15-28124179-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=28124179&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 28124179,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000261609.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.13046G>A",
"hgvs_p": "p.Arg4349His",
"transcript": "NM_004667.6",
"protein_id": "NP_004658.3",
"transcript_support_level": null,
"aa_start": 4349,
"aa_end": null,
"aa_length": 4834,
"cds_start": 13046,
"cds_end": null,
"cds_length": 14505,
"cdna_start": 13182,
"cdna_end": null,
"cdna_length": 15364,
"mane_select": "ENST00000261609.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.13046G>A",
"hgvs_p": "p.Arg4349His",
"transcript": "ENST00000261609.13",
"protein_id": "ENSP00000261609.8",
"transcript_support_level": 1,
"aa_start": 4349,
"aa_end": null,
"aa_length": 4834,
"cds_start": 13046,
"cds_end": null,
"cds_length": 14505,
"cdna_start": 13182,
"cdna_end": null,
"cdna_length": 15364,
"mane_select": "NM_004667.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.13031G>A",
"hgvs_p": "p.Arg4344His",
"transcript": "XM_006720726.4",
"protein_id": "XP_006720789.1",
"transcript_support_level": null,
"aa_start": 4344,
"aa_end": null,
"aa_length": 4829,
"cds_start": 13031,
"cds_end": null,
"cds_length": 14490,
"cdna_start": 13167,
"cdna_end": null,
"cdna_length": 15349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.13019G>A",
"hgvs_p": "p.Arg4340His",
"transcript": "XM_047433206.1",
"protein_id": "XP_047289162.1",
"transcript_support_level": null,
"aa_start": 4340,
"aa_end": null,
"aa_length": 4825,
"cds_start": 13019,
"cds_end": null,
"cds_length": 14478,
"cdna_start": 13025,
"cdna_end": null,
"cdna_length": 15207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.12932G>A",
"hgvs_p": "p.Arg4311His",
"transcript": "XM_005268276.6",
"protein_id": "XP_005268333.1",
"transcript_support_level": null,
"aa_start": 4311,
"aa_end": null,
"aa_length": 4796,
"cds_start": 12932,
"cds_end": null,
"cds_length": 14391,
"cdna_start": 13294,
"cdna_end": null,
"cdna_length": 15476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.12932G>A",
"hgvs_p": "p.Arg4311His",
"transcript": "XM_017022695.1",
"protein_id": "XP_016878184.1",
"transcript_support_level": null,
"aa_start": 4311,
"aa_end": null,
"aa_length": 4796,
"cds_start": 12932,
"cds_end": null,
"cds_length": 14391,
"cdna_start": 13102,
"cdna_end": null,
"cdna_length": 15284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.12932G>A",
"hgvs_p": "p.Arg4311His",
"transcript": "XM_017022696.2",
"protein_id": "XP_016878185.1",
"transcript_support_level": null,
"aa_start": 4311,
"aa_end": null,
"aa_length": 4796,
"cds_start": 12932,
"cds_end": null,
"cds_length": 14391,
"cdna_start": 12999,
"cdna_end": null,
"cdna_length": 15181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.12788G>A",
"hgvs_p": "p.Arg4263His",
"transcript": "XM_006720727.4",
"protein_id": "XP_006720790.1",
"transcript_support_level": null,
"aa_start": 4263,
"aa_end": null,
"aa_length": 4748,
"cds_start": 12788,
"cds_end": null,
"cds_length": 14247,
"cdna_start": 12924,
"cdna_end": null,
"cdna_length": 15106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.12563G>A",
"hgvs_p": "p.Arg4188His",
"transcript": "XM_047433207.1",
"protein_id": "XP_047289163.1",
"transcript_support_level": null,
"aa_start": 4188,
"aa_end": null,
"aa_length": 4673,
"cds_start": 12563,
"cds_end": null,
"cds_length": 14022,
"cdna_start": 12661,
"cdna_end": null,
"cdna_length": 14843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.6212G>A",
"hgvs_p": "p.Arg2071His",
"transcript": "XM_017022697.2",
"protein_id": "XP_016878186.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2556,
"cds_start": 6212,
"cds_end": null,
"cds_length": 7671,
"cdna_start": 6485,
"cdna_end": null,
"cdna_length": 8667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "c.6212G>A",
"hgvs_p": "p.Arg2071His",
"transcript": "XM_017022698.2",
"protein_id": "XP_016878187.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2556,
"cds_start": 6212,
"cds_end": null,
"cds_length": 7671,
"cdna_start": 6398,
"cdna_end": null,
"cdna_length": 8580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "n.*160G>A",
"hgvs_p": null,
"transcript": "ENST00000650509.1",
"protein_id": "ENSP00000496936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"hgvs_c": "n.*160G>A",
"hgvs_p": null,
"transcript": "ENST00000650509.1",
"protein_id": "ENSP00000496936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HERC2",
"gene_hgnc_id": 4868,
"dbsnp": "rs1555401035",
"frequency_reference_population": 0.0000025517722,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000211954,
"gnomad_genomes_af": 0.00000657315,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8534245491027832,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.528,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9519,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.899,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261609.13",
"gene_symbol": "HERC2",
"hgnc_id": 4868,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.13046G>A",
"hgvs_p": "p.Arg4349His"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}