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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: 12-57751338-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57751338&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57751338,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000257904.11",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Met75Val",
"transcript": "NM_000075.4",
"protein_id": "NP_000066.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 303,
"cds_start": 223,
"cds_end": null,
"cds_length": 912,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": "ENST00000257904.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Met75Val",
"transcript": "ENST00000257904.11",
"protein_id": "ENSP00000257904.5",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 303,
"cds_start": 223,
"cds_end": null,
"cds_length": 912,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": "NM_000075.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Met75Val",
"transcript": "ENST00000312990.10",
"protein_id": "ENSP00000316889.6",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 111,
"cds_start": 223,
"cds_end": null,
"cds_length": 336,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "n.589A>G",
"hgvs_p": null,
"transcript": "ENST00000551706.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000546489.5",
"protein_id": "ENSP00000447779.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 207,
"cds_start": 1,
"cds_end": null,
"cds_length": 624,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000547281.5",
"protein_id": "ENSP00000447274.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 185,
"cds_start": 1,
"cds_end": null,
"cds_length": 559,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000551800.5",
"protein_id": "ENSP00000449391.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 131,
"cds_start": 1,
"cds_end": null,
"cds_length": 397,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Met75Val",
"transcript": "ENST00000552254.5",
"protein_id": "ENSP00000449179.1",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 202,
"cds_start": 223,
"cds_end": null,
"cds_length": 609,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Met75Val",
"transcript": "ENST00000552388.1",
"protein_id": "ENSP00000448963.1",
"transcript_support_level": 3,
"aa_start": 75,
"aa_end": null,
"aa_length": 169,
"cds_start": 223,
"cds_end": null,
"cds_length": 511,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Met75Val",
"transcript": "ENST00000552862.1",
"protein_id": "ENSP00000446763.1",
"transcript_support_level": 3,
"aa_start": 75,
"aa_end": null,
"aa_length": 114,
"cds_start": 223,
"cds_end": null,
"cds_length": 346,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "n.223A>G",
"hgvs_p": null,
"transcript": "ENST00000550419.5",
"protein_id": "ENSP00000448098.1",
"transcript_support_level": 3,
"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": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "n.401A>G",
"hgvs_p": null,
"transcript": "ENST00000551888.5",
"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": 636,
"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": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "c.-158+837A>G",
"hgvs_p": null,
"transcript": "ENST00000549606.5",
"protein_id": "ENSP00000447005.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": -4,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"hgvs_c": "n.218+162A>G",
"hgvs_p": null,
"transcript": "ENST00000553237.5",
"protein_id": "ENSP00000448885.1",
"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": 952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDK4",
"gene_hgnc_id": 1773,
"dbsnp": "rs1343218987",
"frequency_reference_population": 6.840975e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84097e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35884684324264526,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.2206,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.053,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000257904.11",
"gene_symbol": "CDK4",
"hgnc_id": 1773,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Met75Val"
}
],
"clinvar_disease": "Familial melanoma,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Familial melanoma|Hereditary cancer-predisposing syndrome|not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}