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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: 15-63712910-C-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63712910&ref=C&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63712910,
"ref": "C",
"alt": "CA",
"effect": "intron_variant",
"transcript": "ENST00000443617.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4464-16dupT",
"hgvs_p": null,
"transcript": "NM_003922.4",
"protein_id": "NP_003913.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4861,
"cds_start": -4,
"cds_end": null,
"cds_length": 14586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15197,
"mane_select": "ENST00000443617.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4464-16_4464-15insT",
"hgvs_p": null,
"transcript": "ENST00000443617.7",
"protein_id": "ENSP00000390158.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4861,
"cds_start": -4,
"cds_end": null,
"cds_length": 14586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15197,
"mane_select": "NM_003922.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.1416-16_1416-15insT",
"hgvs_p": null,
"transcript": "ENST00000561400.1",
"protein_id": "ENSP00000453937.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259589",
"gene_hgnc_id": null,
"hgvs_c": "n.288-556_288-555insA",
"hgvs_p": null,
"transcript": "ENST00000559303.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4491-16dupT",
"hgvs_p": null,
"transcript": "XM_047433210.1",
"protein_id": "XP_047289166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4909,
"cds_start": -4,
"cds_end": null,
"cds_length": 14730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4491-16dupT",
"hgvs_p": null,
"transcript": "XM_047433211.1",
"protein_id": "XP_047289167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4908,
"cds_start": -4,
"cds_end": null,
"cds_length": 14727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4491-16dupT",
"hgvs_p": null,
"transcript": "XM_047433213.1",
"protein_id": "XP_047289169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4902,
"cds_start": -4,
"cds_end": null,
"cds_length": 14709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4491-16dupT",
"hgvs_p": null,
"transcript": "XM_047433214.1",
"protein_id": "XP_047289170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4901,
"cds_start": -4,
"cds_end": null,
"cds_length": 14706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4491-16dupT",
"hgvs_p": null,
"transcript": "XM_047433215.1",
"protein_id": "XP_047289171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4901,
"cds_start": -4,
"cds_end": null,
"cds_length": 14706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4491-16dupT",
"hgvs_p": null,
"transcript": "XM_047433216.1",
"protein_id": "XP_047289172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4894,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4491-16dupT",
"hgvs_p": null,
"transcript": "XM_017022702.2",
"protein_id": "XP_016878191.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 79,
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"gene_symbol": "HERC1",
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"hgvs_c": "c.4491-16dupT",
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"transcript": "XM_047433217.1",
"protein_id": "XP_047289173.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 78,
"intron_rank": 23,
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"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4491-16dupT",
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"transcript": "XM_047433218.1",
"protein_id": "XP_047289174.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 23,
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"gene_symbol": "HERC1",
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"hgvs_c": "c.4491-16dupT",
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"transcript": "XM_047433219.1",
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},
{
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],
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"gene_symbol": "HERC1",
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"transcript": "XM_047433220.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "HERC1",
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"hgvs_c": "c.4491-16dupT",
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"transcript": "XM_047433221.1",
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},
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],
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"gene_symbol": "HERC1",
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"hgvs_c": "c.4491-16dupT",
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"transcript": "XM_047433222.1",
"protein_id": "XP_047289178.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4491-16dupT",
"hgvs_p": null,
"transcript": "XM_047433223.1",
"protein_id": "XP_047289179.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "HERC1",
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"transcript": "XM_047433224.1",
"protein_id": "XP_047289180.1",
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],
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"gene_symbol": "HERC1",
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},
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 23,
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"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.4491-16dupT",
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"transcript": "XM_047433227.1",
"protein_id": "XP_047289183.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC1",
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"hgvs_c": "c.4464-16dupT",
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"transcript": "XM_017022705.2",
"protein_id": "XP_016878194.1",
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}
],
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"dbsnp": "rs369792267",
"frequency_reference_population": 0.0053389,
"hom_count_reference_population": 54,
"allele_count_reference_population": 7330,
"gnomad_exomes_af": 0.00444054,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.006,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000443617.7",
"gene_symbol": "HERC1",
"hgnc_id": 4867,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4464-16_4464-15insT",
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},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000559303.2",
"gene_symbol": "ENSG00000259589",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.288-556_288-555insA",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}