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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: 2-219539471-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219539471&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219539471,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024536.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.2240G>C",
"hgvs_p": "p.Arg747Pro",
"transcript": "NM_024536.6",
"protein_id": "NP_078812.3",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 775,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000243776.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024536.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.2240G>C",
"hgvs_p": "p.Arg747Pro",
"transcript": "ENST00000243776.11",
"protein_id": "ENSP00000243776.6",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 775,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024536.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243776.11"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.2216G>C",
"hgvs_p": "p.Arg739Pro",
"transcript": "ENST00000691864.1",
"protein_id": "ENSP00000509104.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 767,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691864.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Arg721Pro",
"transcript": "ENST00000919936.1",
"protein_id": "ENSP00000589995.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 749,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919936.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.2060G>C",
"hgvs_p": "p.Arg687Pro",
"transcript": "ENST00000888378.1",
"protein_id": "ENSP00000558437.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 715,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888378.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.1754G>C",
"hgvs_p": "p.Arg585Pro",
"transcript": "NM_001195731.2",
"protein_id": "NP_001182660.2",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 613,
"cds_start": 1754,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195731.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.1754G>C",
"hgvs_p": "p.Arg585Pro",
"transcript": "ENST00000535926.3",
"protein_id": "ENSP00000445571.1",
"transcript_support_level": 2,
"aa_start": 585,
"aa_end": null,
"aa_length": 613,
"cds_start": 1754,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535926.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.1367G>C",
"hgvs_p": "p.Arg456Pro",
"transcript": "XM_011511838.4",
"protein_id": "XP_011510140.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 484,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511838.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "n.*1424G>C",
"hgvs_p": null,
"transcript": "ENST00000688634.1",
"protein_id": "ENSP00000509339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688634.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "n.2787G>C",
"hgvs_p": null,
"transcript": "ENST00000693236.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000693236.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "n.*1424G>C",
"hgvs_p": null,
"transcript": "ENST00000688634.1",
"protein_id": "ENSP00000509339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688634.1"
}
],
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"dbsnp": "rs202221950",
"frequency_reference_population": 6.843737e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84374e-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": 0.8217166662216187,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.392,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.639,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.951,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024536.6",
"gene_symbol": "CHPF",
"hgnc_id": 24291,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2240G>C",
"hgvs_p": "p.Arg747Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}