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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: 9-114287611-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114287611&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114287611,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_032888.4",
"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": 61,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.3988-844T>G",
"hgvs_p": null,
"transcript": "NM_032888.4",
"protein_id": "NP_116277.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": -4,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7813,
"mane_select": "ENST00000356083.8",
"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": 61,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.3988-844T>G",
"hgvs_p": null,
"transcript": "ENST00000356083.8",
"protein_id": "ENSP00000348385.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": -4,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7813,
"mane_select": "NM_032888.4",
"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": 58,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "n.*1425-844T>G",
"hgvs_p": null,
"transcript": "ENST00000494090.6",
"protein_id": "ENSP00000432928.1",
"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": 5329,
"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": 61,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.3982-844T>G",
"hgvs_p": null,
"transcript": "XM_011519138.3",
"protein_id": "XP_011517440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1858,
"cds_start": -4,
"cds_end": null,
"cds_length": 5577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7610,
"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": 60,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.3934-844T>G",
"hgvs_p": null,
"transcript": "XM_006717308.3",
"protein_id": "XP_006717371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1842,
"cds_start": -4,
"cds_end": null,
"cds_length": 5529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7759,
"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": 60,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.3934-844T>G",
"hgvs_p": null,
"transcript": "XM_011519140.2",
"protein_id": "XP_011517442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1842,
"cds_start": -4,
"cds_end": null,
"cds_length": 5529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7759,
"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": 60,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.3928-844T>G",
"hgvs_p": null,
"transcript": "XM_047423992.1",
"protein_id": "XP_047279948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1840,
"cds_start": -4,
"cds_end": null,
"cds_length": 5523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7556,
"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": 49,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.3988-844T>G",
"hgvs_p": null,
"transcript": "XM_047423993.1",
"protein_id": "XP_047279949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1516,
"cds_start": -4,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5068,
"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": 42,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.3988-498T>G",
"hgvs_p": null,
"transcript": "XM_011519143.3",
"protein_id": "XP_011517445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1353,
"cds_start": -4,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4739,
"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": 42,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.3988-501T>G",
"hgvs_p": null,
"transcript": "XM_011519144.3",
"protein_id": "XP_011517446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4736,
"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": 52,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.1669-844T>G",
"hgvs_p": null,
"transcript": "XM_006717310.4",
"protein_id": "XP_006717373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": -4,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5169,
"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": 48,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "c.1555-844T>G",
"hgvs_p": null,
"transcript": "XM_011519145.4",
"protein_id": "XP_011517447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": -4,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5047,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124902252",
"gene_hgnc_id": null,
"hgvs_c": "n.186-2894A>C",
"hgvs_p": null,
"transcript": "XR_007061741.1",
"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": 397,
"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": 58,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"hgvs_c": "n.4402-844T>G",
"hgvs_p": null,
"transcript": "XR_929860.4",
"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": 5378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL27A1",
"gene_hgnc_id": 22986,
"dbsnp": "rs946053",
"frequency_reference_population": 0.6295239,
"hom_count_reference_population": 31741,
"allele_count_reference_population": 95704,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.629524,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 95704,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 31741,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"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": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.604,
"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": "NM_032888.4",
"gene_symbol": "COL27A1",
"hgnc_id": 22986,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3988-844T>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007061741.1",
"gene_symbol": "LOC124902252",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.186-2894A>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
}