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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: 19-44907853-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44907853&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44907853,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000252486.9",
"consequences": [
{
"aa_ref": "L",
"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": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Pro",
"transcript": "NM_000041.4",
"protein_id": "NP_000032.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 317,
"cds_start": 137,
"cds_end": null,
"cds_length": 954,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": "ENST00000252486.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"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": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Pro",
"transcript": "ENST00000252486.9",
"protein_id": "ENSP00000252486.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 317,
"cds_start": 137,
"cds_end": null,
"cds_length": 954,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": "NM_000041.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"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": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Pro",
"transcript": "ENST00000425718.1",
"protein_id": "ENSP00000410423.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 218,
"cds_start": 137,
"cds_end": null,
"cds_length": 658,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"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": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "NM_001302688.2",
"protein_id": "NP_001289617.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 343,
"cds_start": 215,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"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": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Pro",
"transcript": "NM_001302689.2",
"protein_id": "NP_001289618.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 317,
"cds_start": 137,
"cds_end": null,
"cds_length": 954,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"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": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Pro",
"transcript": "NM_001302690.2",
"protein_id": "NP_001289619.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 317,
"cds_start": 137,
"cds_end": null,
"cds_length": 954,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"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": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Pro",
"transcript": "NM_001302691.2",
"protein_id": "NP_001289620.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 317,
"cds_start": 137,
"cds_end": null,
"cds_length": 954,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"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": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000434152.5",
"protein_id": "ENSP00000413653.2",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 268,
"cds_start": 215,
"cds_end": null,
"cds_length": 807,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"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": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Pro",
"transcript": "ENST00000446996.5",
"protein_id": "ENSP00000413135.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 215,
"cds_start": 137,
"cds_end": null,
"cds_length": 648,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"dbsnp": "rs769452",
"frequency_reference_population": 0.002016084,
"hom_count_reference_population": 6,
"allele_count_reference_population": 3254,
"gnomad_exomes_af": 0.0020257,
"gnomad_genomes_af": 0.00192376,
"gnomad_exomes_ac": 2961,
"gnomad_genomes_ac": 293,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.013945788145065308,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.534,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2367,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -2.787,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 13,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000252486.9",
"gene_symbol": "APOE",
"hgnc_id": 613,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Leu46Pro"
}
],
"clinvar_disease": "Alzheimer disease 4,Cardiovascular phenotype,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:3 B:1",
"phenotype_combined": "Cardiovascular phenotype|not provided|Alzheimer disease 4",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}