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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: 11-419906-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=419906&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 419906,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001012302.3",
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1787-177G>A",
"hgvs_p": null,
"transcript": "NM_001012302.3",
"protein_id": "NP_001012302.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": null,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000332826.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012302.3"
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1787-177G>A",
"hgvs_p": null,
"transcript": "ENST00000332826.7",
"protein_id": "ENSP00000332788.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": null,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001012302.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332826.7"
},
{
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "n.1898-177G>A",
"hgvs_p": null,
"transcript": "ENST00000528927.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528927.5"
},
{
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1928-177G>A",
"hgvs_p": null,
"transcript": "ENST00000884108.1",
"protein_id": "ENSP00000554167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": null,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884108.1"
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1823-177G>A",
"hgvs_p": null,
"transcript": "ENST00000884106.1",
"protein_id": "ENSP00000554165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": null,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884106.1"
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1817-177G>A",
"hgvs_p": null,
"transcript": "ENST00000884103.1",
"protein_id": "ENSP00000554162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": null,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884103.1"
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1811-177G>A",
"hgvs_p": null,
"transcript": "ENST00000884111.1",
"protein_id": "ENSP00000554170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": null,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884111.1"
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1781-177G>A",
"hgvs_p": null,
"transcript": "ENST00000884101.1",
"protein_id": "ENSP00000554160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884101.1"
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1787-177G>A",
"hgvs_p": null,
"transcript": "ENST00000884104.1",
"protein_id": "ENSP00000554163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884104.1"
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1721-177G>A",
"hgvs_p": null,
"transcript": "ENST00000884110.1",
"protein_id": "ENSP00000554169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": null,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884110.1"
},
{
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1712-177G>A",
"hgvs_p": null,
"transcript": "ENST00000884105.1",
"protein_id": "ENSP00000554164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884105.1"
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1706-177G>A",
"hgvs_p": null,
"transcript": "ENST00000924670.1",
"protein_id": "ENSP00000594729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": null,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924670.1"
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1805+557G>A",
"hgvs_p": null,
"transcript": "ENST00000884109.1",
"protein_id": "ENSP00000554168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": null,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884109.1"
},
{
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1634-177G>A",
"hgvs_p": null,
"transcript": "ENST00000884107.1",
"protein_id": "ENSP00000554166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": null,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884107.1"
},
{
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1628-177G>A",
"hgvs_p": null,
"transcript": "ENST00000884102.1",
"protein_id": "ENSP00000554161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": null,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884102.1"
},
{
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1355-177G>A",
"hgvs_p": null,
"transcript": "NM_001347882.2",
"protein_id": "NP_001334811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347882.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "n.1617G>A",
"hgvs_p": null,
"transcript": "ENST00000526142.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000526142.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "n.4315G>A",
"hgvs_p": null,
"transcript": "ENST00000532094.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000532094.5"
},
{
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "n.1160-177G>A",
"hgvs_p": null,
"transcript": "ENST00000534161.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000534161.5"
}
],
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"dbsnp": "rs7484182",
"frequency_reference_population": 0.81151664,
"hom_count_reference_population": 470779,
"allele_count_reference_population": 1158453,
"gnomad_exomes_af": 0.811458,
"gnomad_genomes_af": 0.812014,
"gnomad_exomes_ac": 1036365,
"gnomad_genomes_ac": 122088,
"gnomad_exomes_homalt": 421535,
"gnomad_genomes_homalt": 49244,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.257,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_001012302.3",
"gene_symbol": "ANO9",
"hgnc_id": 20679,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1787-177G>A",
"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
}