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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: 12-45350652-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=45350652&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 45350652,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000320560.13",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.748-7G>A",
"hgvs_p": null,
"transcript": "NM_001025356.3",
"protein_id": "NP_001020527.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": -4,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5998,
"mane_select": "ENST00000320560.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.748-7G>A",
"hgvs_p": null,
"transcript": "ENST00000320560.13",
"protein_id": "ENSP00000320087.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": -4,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5998,
"mane_select": "NM_001025356.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.811-7G>A",
"hgvs_p": null,
"transcript": "ENST00000423947.7",
"protein_id": "ENSP00000409126.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 931,
"cds_start": -4,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.748-7G>A",
"hgvs_p": null,
"transcript": "ENST00000425752.6",
"protein_id": "ENSP00000391417.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.694-7G>A",
"hgvs_p": null,
"transcript": "ENST00000441606.2",
"protein_id": "ENSP00000413137.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.811-7G>A",
"hgvs_p": null,
"transcript": "NM_001204803.2",
"protein_id": "NP_001191732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 931,
"cds_start": -4,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.748-7G>A",
"hgvs_p": null,
"transcript": "NM_001142679.2",
"protein_id": "NP_001136151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.715-7G>A",
"hgvs_p": null,
"transcript": "NM_001410973.1",
"protein_id": "NP_001397902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": -4,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.715-7G>A",
"hgvs_p": null,
"transcript": "ENST00000679426.1",
"protein_id": "ENSP00000506600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": -4,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.694-7G>A",
"hgvs_p": null,
"transcript": "NM_001142678.2",
"protein_id": "NP_001136150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.748-7G>A",
"hgvs_p": null,
"transcript": "ENST00000681156.1",
"protein_id": "ENSP00000506069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.331-7G>A",
"hgvs_p": null,
"transcript": "ENST00000681817.1",
"protein_id": "ENSP00000506683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": -4,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.331-7G>A",
"hgvs_p": null,
"transcript": "ENST00000680498.1",
"protein_id": "ENSP00000506613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "n.1003-7G>A",
"hgvs_p": null,
"transcript": "ENST00000426898.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "n.748-7G>A",
"hgvs_p": null,
"transcript": "ENST00000679761.1",
"protein_id": "ENSP00000505361.1",
"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": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "n.748-7G>A",
"hgvs_p": null,
"transcript": "ENST00000680201.1",
"protein_id": "ENSP00000506222.1",
"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": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "n.748-7G>A",
"hgvs_p": null,
"transcript": "ENST00000680371.1",
"protein_id": "ENSP00000506392.1",
"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": 3674,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293678",
"gene_hgnc_id": null,
"hgvs_c": "n.162+5948C>T",
"hgvs_p": null,
"transcript": "ENST00000828967.1",
"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": 445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"hgvs_c": "c.649-7G>A",
"hgvs_p": null,
"transcript": "XM_005268707.5",
"protein_id": "XP_005268764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 877,
"cds_start": -4,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANO6",
"gene_hgnc_id": 25240,
"dbsnp": "rs4108250",
"frequency_reference_population": 0.007378449,
"hom_count_reference_population": 480,
"allele_count_reference_population": 11881,
"gnomad_exomes_af": 0.00470775,
"gnomad_genomes_af": 0.032961,
"gnomad_exomes_ac": 6864,
"gnomad_genomes_ac": 5017,
"gnomad_exomes_homalt": 236,
"gnomad_genomes_homalt": 244,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.516,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000146776372569722,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000320560.13",
"gene_symbol": "ANO6",
"hgnc_id": 25240,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.748-7G>A",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000828967.1",
"gene_symbol": "ENSG00000293678",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.162+5948C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}