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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: 6-43200379-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43200379&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43200379,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000252050.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null,
"transcript": "NM_015089.4",
"protein_id": "NP_055904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2517,
"cds_start": -4,
"cds_end": null,
"cds_length": 7554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7759,
"mane_select": "ENST00000252050.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null,
"transcript": "ENST00000252050.9",
"protein_id": "ENSP00000252050.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2517,
"cds_start": -4,
"cds_end": null,
"cds_length": 7554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7759,
"mane_select": "NM_015089.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null,
"transcript": "ENST00000372647.6",
"protein_id": "ENSP00000361730.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2489,
"cds_start": -4,
"cds_end": null,
"cds_length": 7470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7684,
"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": 40,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "n.3839-57A>G",
"hgvs_p": null,
"transcript": "ENST00000515773.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 8150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null,
"transcript": "XM_011514422.2",
"protein_id": "XP_011512724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2566,
"cds_start": -4,
"cds_end": null,
"cds_length": 7701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null,
"transcript": "XM_011514423.3",
"protein_id": "XP_011512725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2566,
"cds_start": -4,
"cds_end": null,
"cds_length": 7701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null,
"transcript": "XM_017010589.2",
"protein_id": "XP_016866078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2566,
"cds_start": -4,
"cds_end": null,
"cds_length": 7701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3304-57A>G",
"hgvs_p": null,
"transcript": "XM_011514424.2",
"protein_id": "XP_011512726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2539,
"cds_start": -4,
"cds_end": null,
"cds_length": 7620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null,
"transcript": "XM_047418475.1",
"protein_id": "XP_047274431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2517,
"cds_start": -4,
"cds_end": null,
"cds_length": 7554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3304-57A>G",
"hgvs_p": null,
"transcript": "XM_047418476.1",
"protein_id": "XP_047274432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2490,
"cds_start": -4,
"cds_end": null,
"cds_length": 7473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3055-57A>G",
"hgvs_p": null,
"transcript": "XM_011514425.2",
"protein_id": "XP_011512727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2456,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7576,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3028-57A>G",
"hgvs_p": null,
"transcript": "XM_047418477.1",
"protein_id": "XP_047274433.1",
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3028-57A>G",
"hgvs_p": null,
"transcript": "XM_047418478.1",
"protein_id": "XP_047274434.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3055-57A>G",
"hgvs_p": null,
"transcript": "XM_047418479.1",
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},
{
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],
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"gene_symbol": "CUL9",
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"hgvs_c": "c.3028-57A>G",
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"transcript": "XM_047418480.1",
"protein_id": "XP_047274436.1",
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 35,
"intron_rank": 14,
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"gene_symbol": "CUL9",
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"hgvs_c": "c.3385-57A>G",
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"transcript": "XM_011514426.2",
"protein_id": "XP_011512728.1",
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},
{
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],
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"intron_rank": 10,
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"gene_symbol": "CUL9",
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"hgvs_c": "c.1972-57A>G",
"hgvs_p": null,
"transcript": "XM_011514427.1",
"protein_id": "XP_011512729.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null,
"transcript": "XM_047418481.1",
"protein_id": "XP_047274437.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.1414-57A>G",
"hgvs_p": null,
"transcript": "XM_017010590.1",
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},
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],
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"intron_rank": 14,
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"gene_symbol": "CUL9",
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"hgvs_c": "c.3385-57A>G",
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"transcript": "XM_011514428.2",
"protein_id": "XP_011512730.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "CUL9",
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"hgvs_c": "c.3385-57A>G",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null,
"transcript": "XM_011514430.2",
"protein_id": "XP_011512732.1",
"transcript_support_level": null,
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"cds_start": -4,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CUL9",
"gene_hgnc_id": 15982,
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null,
"transcript": "XM_047418483.1",
"protein_id": "XP_047274439.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
}
],
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"dbsnp": "rs9462875",
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"hom_count_reference_population": 28364,
"allele_count_reference_population": 281850,
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"gnomad_genomes_af": 0.234509,
"gnomad_exomes_ac": 246237,
"gnomad_genomes_ac": 35613,
"gnomad_exomes_homalt": 22852,
"gnomad_genomes_homalt": 5512,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.598,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000252050.9",
"gene_symbol": "CUL9",
"hgnc_id": 15982,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3385-57A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}