← Back to variant description
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: 2-110660580-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=110660580&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 110660580,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000302759.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1218-544A>G",
"hgvs_p": null,
"transcript": "NM_004336.5",
"protein_id": "NP_004327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1085,
"cds_start": -4,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": "ENST00000302759.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1218-544A>G",
"hgvs_p": null,
"transcript": "ENST00000302759.11",
"protein_id": "ENSP00000302530.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1085,
"cds_start": -4,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": "NM_004336.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1218-544A>G",
"hgvs_p": null,
"transcript": "ENST00000409311.5",
"protein_id": "ENSP00000386701.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "n.1251-544A>G",
"hgvs_p": null,
"transcript": "ENST00000466333.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1158-544A>G",
"hgvs_p": null,
"transcript": "NM_001278616.2",
"protein_id": "NP_001265545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1065,
"cds_start": -4,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1158-544A>G",
"hgvs_p": null,
"transcript": "ENST00000535254.6",
"protein_id": "ENSP00000441013.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1065,
"cds_start": -4,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1218-544A>G",
"hgvs_p": null,
"transcript": "NM_001278617.2",
"protein_id": "NP_001265546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1191-544A>G",
"hgvs_p": null,
"transcript": "ENST00000666956.1",
"protein_id": "ENSP00000499728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
"cds_end": null,
"cds_length": 1304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289202",
"gene_hgnc_id": null,
"hgvs_c": "n.164-31939T>C",
"hgvs_p": null,
"transcript": "ENST00000722176.1",
"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": 431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1218-544A>G",
"hgvs_p": null,
"transcript": "XM_047445616.1",
"protein_id": "XP_047301572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 850,
"cds_start": -4,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"dbsnp": "rs12623473",
"frequency_reference_population": 0.008091423,
"hom_count_reference_population": 75,
"allele_count_reference_population": 1232,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00809142,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1232,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 75,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.105,
"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": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000302759.11",
"gene_symbol": "BUB1",
"hgnc_id": 1148,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.1218-544A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000722176.1",
"gene_symbol": "ENSG00000289202",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.164-31939T>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
}