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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: 16-57382350-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57382350&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57382350,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002996.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CX3CL1",
"gene_hgnc_id": 10647,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Pro171Arg",
"transcript": "NM_002996.6",
"protein_id": "NP_002987.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 397,
"cds_start": 512,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000006053.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002996.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CX3CL1",
"gene_hgnc_id": 10647,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Pro171Arg",
"transcript": "ENST00000006053.7",
"protein_id": "ENSP00000006053.6",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 397,
"cds_start": 512,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002996.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000006053.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CX3CL1",
"gene_hgnc_id": 10647,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Pro133Arg",
"transcript": "ENST00000565912.1",
"protein_id": "ENSP00000464114.1",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 359,
"cds_start": 398,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565912.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CX3CL1",
"gene_hgnc_id": 10647,
"hgvs_c": "c.530C>G",
"hgvs_p": "p.Pro177Arg",
"transcript": "ENST00000563383.1",
"protein_id": "ENSP00000456830.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 403,
"cds_start": 530,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563383.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CX3CL1",
"gene_hgnc_id": 10647,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "NM_001304392.3",
"protein_id": "NP_001291321.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 312,
"cds_start": 257,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304392.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CX3CL1",
"gene_hgnc_id": 10647,
"hgvs_c": "c.*223C>G",
"hgvs_p": null,
"transcript": "ENST00000564948.1",
"protein_id": "ENSP00000457996.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564948.1"
}
],
"gene_symbol": "CX3CL1",
"gene_hgnc_id": 10647,
"dbsnp": "rs541210508",
"frequency_reference_population": 0.0000013720094,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137201,
"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": 0.07650023698806763,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.1013,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.108,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002996.6",
"gene_symbol": "CX3CL1",
"hgnc_id": 10647,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Pro171Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}