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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: 11-5248418-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=5248418&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 5248418,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000330597.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"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": "HBG1",
"gene_hgnc_id": 4831,
"hgvs_c": "c.385G>T",
"hgvs_p": "p.Ala129Ser",
"transcript": "NM_000559.3",
"protein_id": "NP_000550.2",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 147,
"cds_start": 385,
"cds_end": null,
"cds_length": 444,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 587,
"mane_select": "ENST00000330597.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"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": "HBG1",
"gene_hgnc_id": 4831,
"hgvs_c": "c.385G>T",
"hgvs_p": "p.Ala129Ser",
"transcript": "ENST00000330597.5",
"protein_id": "ENSP00000327431.4",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 147,
"cds_start": 385,
"cds_end": null,
"cds_length": 444,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 587,
"mane_select": "NM_000559.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"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": "ENSG00000284931",
"gene_hgnc_id": null,
"hgvs_c": "c.385G>T",
"hgvs_p": "p.Ala129Ser",
"transcript": "ENST00000642908.1",
"protein_id": "ENSP00000495346.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 147,
"cds_start": 385,
"cds_end": null,
"cds_length": 444,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "ENSG00000284931",
"gene_hgnc_id": null,
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"transcript": "ENST00000647543.1",
"protein_id": "ENSP00000496470.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 168,
"cds_start": 448,
"cds_end": null,
"cds_length": 507,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBG1",
"gene_hgnc_id": 4831,
"hgvs_c": "n.1316G>T",
"hgvs_p": null,
"transcript": "ENST00000648735.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBG1",
"gene_hgnc_id": 4831,
"hgvs_c": "c.*254G>T",
"hgvs_p": null,
"transcript": "ENST00000632727.1",
"protein_id": "ENSP00000488759.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": -4,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HBG1",
"gene_hgnc_id": 4831,
"dbsnp": "rs41330850",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84075e-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": 0.5063414573669434,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.55,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.109,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.345,
"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": "ENST00000330597.5",
"gene_symbol": "HBG1",
"hgnc_id": 4831,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.385G>T",
"hgvs_p": "p.Ala129Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642908.1",
"gene_symbol": "ENSG00000284931",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.385G>T",
"hgvs_p": "p.Ala129Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}