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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: 11-418947-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=418947&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 418947,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001012302.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1977C>A",
"hgvs_p": "p.His659Gln",
"transcript": "NM_001012302.3",
"protein_id": "NP_001012302.2",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 782,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": "ENST00000332826.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012302.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1977C>A",
"hgvs_p": "p.His659Gln",
"transcript": "ENST00000332826.7",
"protein_id": "ENSP00000332788.6",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 782,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 2867,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "n.469C>A",
"hgvs_p": null,
"transcript": "ENST00000524802.1",
"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": 671,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000524802.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "n.2088C>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": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528927.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.2118C>A",
"hgvs_p": "p.His706Gln",
"transcript": "ENST00000884108.1",
"protein_id": "ENSP00000554167.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 829,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884108.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.2013C>A",
"hgvs_p": "p.His671Gln",
"transcript": "ENST00000884106.1",
"protein_id": "ENSP00000554165.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 794,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2096,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884106.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.2007C>A",
"hgvs_p": "p.His669Gln",
"transcript": "ENST00000884103.1",
"protein_id": "ENSP00000554162.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 792,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884103.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.2001C>A",
"hgvs_p": "p.His667Gln",
"transcript": "ENST00000884111.1",
"protein_id": "ENSP00000554170.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 790,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884111.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1971C>A",
"hgvs_p": "p.His657Gln",
"transcript": "ENST00000884101.1",
"protein_id": "ENSP00000554160.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 780,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884101.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1977C>A",
"hgvs_p": "p.His659Gln",
"transcript": "ENST00000884104.1",
"protein_id": "ENSP00000554163.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 780,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884104.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1911C>A",
"hgvs_p": "p.His637Gln",
"transcript": "ENST00000884110.1",
"protein_id": "ENSP00000554169.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 760,
"cds_start": 1911,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884110.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1902C>A",
"hgvs_p": "p.His634Gln",
"transcript": "ENST00000884105.1",
"protein_id": "ENSP00000554164.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 757,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884105.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1896C>A",
"hgvs_p": "p.His632Gln",
"transcript": "ENST00000924670.1",
"protein_id": "ENSP00000594729.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 755,
"cds_start": 1896,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924670.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1848C>A",
"hgvs_p": "p.His616Gln",
"transcript": "ENST00000884109.1",
"protein_id": "ENSP00000554168.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 739,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884109.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1824C>A",
"hgvs_p": "p.His608Gln",
"transcript": "ENST00000884107.1",
"protein_id": "ENSP00000554166.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 731,
"cds_start": 1824,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884107.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1818C>A",
"hgvs_p": "p.His606Gln",
"transcript": "ENST00000884102.1",
"protein_id": "ENSP00000554161.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 729,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884102.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "c.1545C>A",
"hgvs_p": "p.His515Gln",
"transcript": "NM_001347882.2",
"protein_id": "NP_001334811.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 638,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 2947,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "n.1984C>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": 2868,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "n.4682C>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": 5487,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"hgvs_c": "n.1350C>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": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000534161.5"
}
],
"gene_symbol": "ANO9",
"gene_hgnc_id": 20679,
"dbsnp": "rs374660946",
"frequency_reference_population": 0.0000034216202,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342162,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08191117644309998,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.1006,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.3,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001012302.3",
"gene_symbol": "ANO9",
"hgnc_id": 20679,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1977C>A",
"hgvs_p": "p.His659Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}