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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: 11-64832530-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64832530&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64832530,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000342711.6",
"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": 37,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3006-21C>T",
"hgvs_p": null,
"transcript": "NM_017525.3",
"protein_id": "NP_059995.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1551,
"cds_start": -4,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": "ENST00000342711.6",
"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": 37,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3006-21C>T",
"hgvs_p": null,
"transcript": "ENST00000342711.6",
"protein_id": "ENSP00000345133.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1551,
"cds_start": -4,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": "NM_017525.3",
"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": 37,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3060-21C>T",
"hgvs_p": null,
"transcript": "XM_011545155.4",
"protein_id": "XP_011543457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1569,
"cds_start": -4,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6215,
"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": 37,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3057-21C>T",
"hgvs_p": null,
"transcript": "XM_017017996.3",
"protein_id": "XP_016873485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1568,
"cds_start": -4,
"cds_end": null,
"cds_length": 4707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6212,
"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": 37,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3039-21C>T",
"hgvs_p": null,
"transcript": "XM_011545156.4",
"protein_id": "XP_011543458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1562,
"cds_start": -4,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6194,
"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": 37,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.2985-21C>T",
"hgvs_p": null,
"transcript": "XM_047427248.1",
"protein_id": "XP_047283204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1544,
"cds_start": -4,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6140,
"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": 36,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3060-21C>T",
"hgvs_p": null,
"transcript": "XM_011545157.4",
"protein_id": "XP_011543459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1530,
"cds_start": -4,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6117,
"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": 36,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3006-21C>T",
"hgvs_p": null,
"transcript": "XM_047427249.1",
"protein_id": "XP_047283205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1512,
"cds_start": -4,
"cds_end": null,
"cds_length": 4539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6063,
"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": 36,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.2985-21C>T",
"hgvs_p": null,
"transcript": "XM_047427250.1",
"protein_id": "XP_047283206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1505,
"cds_start": -4,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6042,
"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": 35,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3060-21C>T",
"hgvs_p": null,
"transcript": "XM_011545158.4",
"protein_id": "XP_011543460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1495,
"cds_start": -4,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5993,
"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": 35,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3060-21C>T",
"hgvs_p": null,
"transcript": "XM_011545159.4",
"protein_id": "XP_011543461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1481,
"cds_start": -4,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4610,
"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": 38,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.2766-21C>T",
"hgvs_p": null,
"transcript": "XM_011545160.4",
"protein_id": "XP_011543462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1471,
"cds_start": -4,
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"cds_length": 4416,
"cdna_start": null,
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"cdna_length": 6383,
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3060-21C>T",
"hgvs_p": null,
"transcript": "XM_017017997.3",
"protein_id": "XP_016873486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1139,
"cds_start": -4,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
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"cdna_length": 3530,
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3060-21C>T",
"hgvs_p": null,
"transcript": "XM_011545161.4",
"protein_id": "XP_011543463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": -4,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
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"cdna_length": 3528,
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3006-21C>T",
"hgvs_p": null,
"transcript": "XM_047427251.1",
"protein_id": "XP_047283207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1121,
"cds_start": -4,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3521,
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "c.3060-21C>T",
"hgvs_p": null,
"transcript": "XM_017017998.3",
"protein_id": "XP_016873487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "n.3144-21C>T",
"hgvs_p": null,
"transcript": "XR_949988.4",
"protein_id": null,
"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": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "n.-48C>T",
"hgvs_p": null,
"transcript": "ENST00000491280.1",
"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": 339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"hgvs_c": "n.*121C>T",
"hgvs_p": null,
"transcript": "XR_949989.4",
"protein_id": null,
"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": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDC42BPG",
"gene_hgnc_id": 29829,
"dbsnp": "rs494252",
"frequency_reference_population": 0.0000013683203,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136832,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"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": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.014,
"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": "ENST00000342711.6",
"gene_symbol": "CDC42BPG",
"hgnc_id": 29829,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3006-21C>T",
"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
}