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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: 7-80633685-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=80633685&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 80633685,
"ref": "C",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "XM_047421048.1",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-183-12403C>G",
"hgvs_p": null,
"transcript": "ENST00000309881.11",
"protein_id": "ENSP00000308165.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-1576C>G",
"hgvs_p": null,
"transcript": "XM_047421048.1",
"protein_id": "XP_047277004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6239,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-183-12403C>G",
"hgvs_p": null,
"transcript": "NM_001001547.3",
"protein_id": "NP_001001547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2048,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-179-12407C>G",
"hgvs_p": null,
"transcript": "NM_001371074.1",
"protein_id": "NP_001358003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2044,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-183-12403C>G",
"hgvs_p": null,
"transcript": "NM_001371075.1",
"protein_id": "NP_001358004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4666,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-184+9495C>G",
"hgvs_p": null,
"transcript": "NM_001371077.1",
"protein_id": "NP_001358006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4592,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-184+9495C>G",
"hgvs_p": null,
"transcript": "NM_001371078.1",
"protein_id": "NP_001358007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1974,
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-183-12403C>G",
"hgvs_p": null,
"transcript": "ENST00000435819.5",
"protein_id": "ENSP00000399421.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2365,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-108-22855C>G",
"hgvs_p": null,
"transcript": "NM_001289911.2",
"protein_id": "NP_001276840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1745,
"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": 12,
"intron_rank": 1,
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-108-22855C>G",
"hgvs_p": null,
"transcript": "ENST00000534394.5",
"protein_id": "ENSP00000431296.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
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"cds_length": 1191,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-184-27378C>G",
"hgvs_p": null,
"transcript": "NM_001371080.1",
"protein_id": "NP_001358009.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "CD36",
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"hgvs_c": "c.-665-12403C>G",
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"transcript": "NM_001371081.1",
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},
{
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],
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"gene_symbol": "CD36",
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"hgvs_c": "c.-184+9495C>G",
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"transcript": "ENST00000438020.5",
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},
{
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],
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"hgvs_c": "c.-184+7453C>G",
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"transcript": "ENST00000428497.5",
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},
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],
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"transcript": "ENST00000436384.5",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "CD36",
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"hgvs_c": "n.231-12403C>G",
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},
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],
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "CD36",
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"hgvs_c": "c.-183-12403C>G",
"hgvs_p": null,
"transcript": "XM_024447003.2",
"protein_id": "XP_024302771.1",
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},
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-356+323C>G",
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"transcript": "XM_047421041.1",
"protein_id": "XP_047276997.1",
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],
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},
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],
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"transcript": "XM_047421043.1",
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},
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"consequences": [
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],
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-184+9495C>G",
"hgvs_p": null,
"transcript": "XM_047421044.1",
"protein_id": "XP_047277000.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.-184+9495C>G",
"hgvs_p": null,
"transcript": "XM_047421045.1",
"protein_id": "XP_047277001.1",
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},
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
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"intron_variant"
],
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"gene_symbol": "CD36",
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"transcript": "XM_047421047.1",
"protein_id": "XP_047277003.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"gene_symbol": "CD36",
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"hgvs_c": "c.-355-3147C>G",
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"transcript": "XM_047421049.1",
"protein_id": "XP_047277005.1",
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}
],
"gene_symbol": "CD36",
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"dbsnp": "rs9784998",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9900000095367432,
"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": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.031,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_047421048.1",
"gene_symbol": "CD36",
"hgnc_id": 1663,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-1576C>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}