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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: 2-96124143-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96124143&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96124143,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001002036.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTL",
"gene_hgnc_id": 31704,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Ile",
"transcript": "NM_001002036.4",
"protein_id": "NP_001002036.3",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 431,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342380.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002036.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTL",
"gene_hgnc_id": 31704,
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Ile",
"transcript": "ENST00000342380.3",
"protein_id": "ENSP00000343674.2",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 431,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001002036.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342380.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTL",
"gene_hgnc_id": 31704,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Val317Ile",
"transcript": "ENST00000867255.1",
"protein_id": "ENSP00000537314.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 413,
"cds_start": 949,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867255.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTL",
"gene_hgnc_id": 31704,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Ile",
"transcript": "XM_011511205.3",
"protein_id": "XP_011509507.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 436,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511205.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTL",
"gene_hgnc_id": 31704,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Val322Ile",
"transcript": "XM_011511207.3",
"protein_id": "XP_011509509.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 418,
"cds_start": 964,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511207.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTL",
"gene_hgnc_id": 31704,
"hgvs_c": "c.*104G>A",
"hgvs_p": null,
"transcript": "XM_011511208.3",
"protein_id": "XP_011509510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511208.3"
}
],
"gene_symbol": "ASTL",
"gene_hgnc_id": 31704,
"dbsnp": "rs199510888",
"frequency_reference_population": 0.000018462166,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000176248,
"gnomad_genomes_af": 0.0000262598,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029988348484039307,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0779,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.423,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001002036.4",
"gene_symbol": "ASTL",
"hgnc_id": 31704,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Val335Ile"
}
],
"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
}