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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: 16-57360506-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57360506&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57360506,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002990.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL22",
"gene_hgnc_id": 10621,
"hgvs_c": "c.143G>C",
"hgvs_p": "p.Arg48Pro",
"transcript": "NM_002990.5",
"protein_id": "NP_002981.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 93,
"cds_start": 143,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000219235.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002990.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL22",
"gene_hgnc_id": 10621,
"hgvs_c": "c.143G>C",
"hgvs_p": "p.Arg48Pro",
"transcript": "ENST00000219235.5",
"protein_id": "ENSP00000219235.4",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 93,
"cds_start": 143,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002990.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219235.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL22",
"gene_hgnc_id": 10621,
"hgvs_c": "c.143G>C",
"hgvs_p": "p.Arg48Pro",
"transcript": "ENST00000941195.1",
"protein_id": "ENSP00000611254.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 93,
"cds_start": 143,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941195.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL22",
"gene_hgnc_id": 10621,
"hgvs_c": "c.182G>C",
"hgvs_p": "p.Arg61Pro",
"transcript": "XM_047434449.1",
"protein_id": "XP_047290405.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 106,
"cds_start": 182,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434449.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCL22",
"gene_hgnc_id": 10621,
"hgvs_c": "c.143G>C",
"hgvs_p": "p.Arg48Pro",
"transcript": "XM_047434450.1",
"protein_id": "XP_047290406.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 93,
"cds_start": 143,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434450.1"
}
],
"gene_symbol": "CCL22",
"gene_hgnc_id": 10621,
"dbsnp": "rs376546990",
"frequency_reference_population": 0.0000041043377,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410434,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6894668340682983,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.158,
"revel_prediction": "Benign",
"alphamissense_score": 0.2743,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.791,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002990.5",
"gene_symbol": "CCL22",
"hgnc_id": 10621,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.143G>C",
"hgvs_p": "p.Arg48Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}