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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: 12-123957333-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123957333&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123957333,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000238156.8",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-59-12969G>C",
"hgvs_p": null,
"transcript": "NM_025140.3",
"protein_id": "NP_079416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": "ENST00000238156.8",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-59-12969G>C",
"hgvs_p": null,
"transcript": "ENST00000238156.8",
"protein_id": "ENSP00000238156.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": "NM_025140.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-1109G>C",
"hgvs_p": null,
"transcript": "XM_005253624.3",
"protein_id": "XP_005253681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-1278G>C",
"hgvs_p": null,
"transcript": "XM_047429567.1",
"protein_id": "XP_047285523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17792,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-49-12979G>C",
"hgvs_p": null,
"transcript": "NM_001304957.2",
"protein_id": "NP_001291886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2780,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-156-11533G>C",
"hgvs_p": null,
"transcript": "NM_001304958.2",
"protein_id": "NP_001291887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2887,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-59-12969G>C",
"hgvs_p": null,
"transcript": "NM_001304959.2",
"protein_id": "NP_001291888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2652,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-228-11533G>C",
"hgvs_p": null,
"transcript": "NM_001304960.2",
"protein_id": "NP_001291889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2821,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-17-13840G>C",
"hgvs_p": null,
"transcript": "NM_001304961.2",
"protein_id": "NP_001291890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": -4,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2697,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-17-13840G>C",
"hgvs_p": null,
"transcript": "ENST00000545891.5",
"protein_id": "ENSP00000440024.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-228-11533G>C",
"hgvs_p": null,
"transcript": "ENST00000539761.5",
"protein_id": "ENSP00000439441.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-178-889G>C",
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"transcript": "ENST00000535556.5",
"protein_id": "ENSP00000438281.1",
"transcript_support_level": 4,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "CCDC92",
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"hgvs_c": "c.-220-889G>C",
"hgvs_p": null,
"transcript": "ENST00000539551.5",
"protein_id": "ENSP00000442369.1",
"transcript_support_level": 3,
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},
{
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"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "CCDC92",
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"hgvs_c": "c.-220-889G>C",
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"transcript": "ENST00000545037.1",
"protein_id": "ENSP00000440203.1",
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},
{
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"intron_variant"
],
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-220-889G>C",
"hgvs_p": null,
"transcript": "XM_024449193.2",
"protein_id": "XP_024304961.1",
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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,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-228-11533G>C",
"hgvs_p": null,
"transcript": "XM_024449194.2",
"protein_id": "XP_024304962.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "CCDC92",
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"hgvs_c": "c.-292-889G>C",
"hgvs_p": null,
"transcript": "XM_024449196.2",
"protein_id": "XP_024304964.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-131-12593G>C",
"hgvs_p": null,
"transcript": "XM_024449197.2",
"protein_id": "XP_024304965.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"hgvs_c": "c.-59-12969G>C",
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"transcript": "XM_024449199.2",
"protein_id": "XP_024304967.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "CCDC92",
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"hgvs_c": "c.-121-12593G>C",
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"transcript": "XM_047429566.1",
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}
],
"gene_symbol": "CCDC92",
"gene_hgnc_id": 29563,
"dbsnp": "rs7305864",
"frequency_reference_population": 0.32035285,
"hom_count_reference_population": 7980,
"allele_count_reference_population": 48734,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.320353,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 48734,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 7980,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.454,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000238156.8",
"gene_symbol": "CCDC92",
"hgnc_id": 29563,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-59-12969G>C",
"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
}