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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: 15-98944852-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=98944852&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 98944852,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000650285.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3587+1800G>C",
"hgvs_p": null,
"transcript": "NM_000875.5",
"protein_id": "NP_000866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1367,
"cds_start": -4,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12235,
"mane_select": "ENST00000650285.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3587+1800G>C",
"hgvs_p": null,
"transcript": "ENST00000650285.1",
"protein_id": "ENSP00000497069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1367,
"cds_start": -4,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12235,
"mane_select": "NM_000875.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3584+1800G>C",
"hgvs_p": null,
"transcript": "NM_001291858.2",
"protein_id": "NP_001278787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": -4,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3584+1800G>C",
"hgvs_p": null,
"transcript": "ENST00000649865.1",
"protein_id": "ENSP00000496919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": -4,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3662+1800G>C",
"hgvs_p": null,
"transcript": "XM_017022137.2",
"protein_id": "XP_016877626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1392,
"cds_start": -4,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3659+1800G>C",
"hgvs_p": null,
"transcript": "XM_047432442.1",
"protein_id": "XP_047288398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1391,
"cds_start": -4,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3587+1800G>C",
"hgvs_p": null,
"transcript": "XM_047432443.1",
"protein_id": "XP_047288399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1367,
"cds_start": -4,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3584+1800G>C",
"hgvs_p": null,
"transcript": "XM_047432444.1",
"protein_id": "XP_047288400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": -4,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.3224+1800G>C",
"hgvs_p": null,
"transcript": "XM_047432445.1",
"protein_id": "XP_047288401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1246,
"cds_start": -4,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.2678+1800G>C",
"hgvs_p": null,
"transcript": "XM_011521516.3",
"protein_id": "XP_011519818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1064,
"cds_start": -4,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 47088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"hgvs_c": "c.2252+1800G>C",
"hgvs_p": null,
"transcript": "XM_011521517.3",
"protein_id": "XP_011519819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 922,
"cds_start": -4,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IGF1R",
"gene_hgnc_id": 5465,
"dbsnp": "rs2684792",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.44,
"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": "ENST00000650285.1",
"gene_symbol": "IGF1R",
"hgnc_id": 5465,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3587+1800G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}