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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: 19-50723951-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50723951&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50723951,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002975.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC11A",
"gene_hgnc_id": 10576,
"hgvs_c": "c.194A>C",
"hgvs_p": "p.Asn65Thr",
"transcript": "NM_002975.3",
"protein_id": "NP_002966.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 323,
"cds_start": 194,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000250340.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002975.3"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC11A",
"gene_hgnc_id": 10576,
"hgvs_c": "c.194A>C",
"hgvs_p": "p.Asn65Thr",
"transcript": "ENST00000250340.9",
"protein_id": "ENSP00000250340.3",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 323,
"cds_start": 194,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002975.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250340.9"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC11A",
"gene_hgnc_id": 10576,
"hgvs_c": "c.194A>C",
"hgvs_p": "p.Asn65Thr",
"transcript": "ENST00000599973.1",
"protein_id": "ENSP00000471075.1",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 317,
"cds_start": 194,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599973.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC11A",
"gene_hgnc_id": 10576,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Asn62Thr",
"transcript": "ENST00000883282.1",
"protein_id": "ENSP00000553341.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 320,
"cds_start": 185,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883282.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC11A",
"gene_hgnc_id": 10576,
"hgvs_c": "c.53A>C",
"hgvs_p": "p.Asn18Thr",
"transcript": "ENST00000883280.1",
"protein_id": "ENSP00000553339.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 276,
"cds_start": 53,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883280.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC11A",
"gene_hgnc_id": 10576,
"hgvs_c": "c.44A>C",
"hgvs_p": "p.Asn15Thr",
"transcript": "ENST00000883281.1",
"protein_id": "ENSP00000553340.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 273,
"cds_start": 44,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883281.1"
}
],
"gene_symbol": "CLEC11A",
"gene_hgnc_id": 10576,
"dbsnp": "rs778470033",
"frequency_reference_population": 0.000017353299,
"hom_count_reference_population": 1,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000184735,
"gnomad_genomes_af": 0.00000658016,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03947043418884277,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0965,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.241,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002975.3",
"gene_symbol": "CLEC11A",
"hgnc_id": 10576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.194A>C",
"hgvs_p": "p.Asn65Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}