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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: 11-44081244-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=44081244&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 44081244,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000263776.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.Ala345Ala",
"transcript": "NM_032592.4",
"protein_id": "NP_115981.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 501,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": "ENST00000263776.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.Ala345Ala",
"transcript": "ENST00000263776.9",
"protein_id": "ENSP00000263776.8",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 501,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": "NM_032592.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.Ala345Ala",
"transcript": "NM_001127219.2",
"protein_id": "NP_001120691.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 501,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.1338C>A",
"hgvs_p": "p.Ala446Ala",
"transcript": "XM_005253170.4",
"protein_id": "XP_005253227.2",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 602,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.1338C>A",
"hgvs_p": "p.Ala446Ala",
"transcript": "XM_011520406.3",
"protein_id": "XP_011518708.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 576,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.Ala345Ala",
"transcript": "XM_024448718.2",
"protein_id": "XP_024304486.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 475,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.Ala345Ala",
"transcript": "XM_024448719.2",
"protein_id": "XP_024304487.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 475,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.672C>A",
"hgvs_p": "p.Ala224Ala",
"transcript": "XM_011520407.1",
"protein_id": "XP_011518709.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 380,
"cds_start": 672,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.645C>A",
"hgvs_p": "p.Ala215Ala",
"transcript": "XM_005253172.2",
"protein_id": "XP_005253229.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 371,
"cds_start": 645,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.489C>A",
"hgvs_p": "p.Ala163Ala",
"transcript": "XM_006718348.3",
"protein_id": "XP_006718411.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 319,
"cds_start": 489,
"cds_end": null,
"cds_length": 960,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.489C>A",
"hgvs_p": "p.Ala163Ala",
"transcript": "XM_047427718.1",
"protein_id": "XP_047283674.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 319,
"cds_start": 489,
"cds_end": null,
"cds_length": 960,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "n.2472C>A",
"hgvs_p": null,
"transcript": "ENST00000527346.5",
"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": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "n.204C>A",
"hgvs_p": null,
"transcript": "ENST00000527557.5",
"protein_id": null,
"transcript_support_level": 3,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "n.395C>A",
"hgvs_p": null,
"transcript": "ENST00000531190.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "n.735C>A",
"hgvs_p": null,
"transcript": "ENST00000531505.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "n.395C>A",
"hgvs_p": null,
"transcript": "ENST00000532122.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "n.114C>A",
"hgvs_p": null,
"transcript": "ENST00000534035.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "n.2062C>A",
"hgvs_p": null,
"transcript": "XR_007062513.1",
"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": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "n.2062C>A",
"hgvs_p": null,
"transcript": "XR_007062514.1",
"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": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.*3683C>A",
"hgvs_p": null,
"transcript": "XM_047427717.1",
"protein_id": "XP_047283673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": -4,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"hgvs_c": "c.*3708C>A",
"hgvs_p": null,
"transcript": "XM_047427719.1",
"protein_id": "XP_047283675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACCS",
"gene_hgnc_id": 23989,
"dbsnp": "rs3213455",
"frequency_reference_population": 0.0000037171865,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000273618,
"gnomad_genomes_af": 0.0000131377,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6000000238418579,
"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": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.768,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000263776.9",
"gene_symbol": "ACCS",
"hgnc_id": 23989,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.Ala345Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}