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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: 12-1840773-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=1840773&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 1840773,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000382722.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2517G>A",
"hgvs_p": "p.Ala839Ala",
"transcript": "NM_172364.5",
"protein_id": "NP_758952.4",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2517,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2696,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": "ENST00000382722.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2517G>A",
"hgvs_p": "p.Ala839Ala",
"transcript": "ENST00000382722.10",
"protein_id": "ENSP00000372169.4",
"transcript_support_level": 1,
"aa_start": 839,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2517,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2696,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": "NM_172364.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2517G>A",
"hgvs_p": "p.Ala839Ala",
"transcript": "ENST00000586184.5",
"protein_id": "ENSP00000465060.1",
"transcript_support_level": 5,
"aa_start": 839,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2517,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2442G>A",
"hgvs_p": "p.Ala814Ala",
"transcript": "ENST00000587995.5",
"protein_id": "ENSP00000465372.1",
"transcript_support_level": 5,
"aa_start": 814,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2442,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2325G>A",
"hgvs_p": "p.Ala775Ala",
"transcript": "ENST00000585708.5",
"protein_id": "ENSP00000467697.1",
"transcript_support_level": 5,
"aa_start": 775,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2325,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2325G>A",
"hgvs_p": "p.Ala775Ala",
"transcript": "ENST00000588077.5",
"protein_id": "ENSP00000468530.1",
"transcript_support_level": 5,
"aa_start": 775,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2325,
"cds_end": null,
"cds_length": 3222,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "n.*763G>A",
"hgvs_p": null,
"transcript": "ENST00000444595.6",
"protein_id": "ENSP00000403371.2",
"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": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "n.357G>A",
"hgvs_p": null,
"transcript": "ENST00000537784.5",
"protein_id": "ENSP00000440231.2",
"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": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "n.*763G>A",
"hgvs_p": null,
"transcript": "ENST00000444595.6",
"protein_id": "ENSP00000403371.2",
"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": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2100G>A",
"hgvs_p": "p.Ala700Ala",
"transcript": "ENST00000585732.1",
"protein_id": "ENSP00000468080.1",
"transcript_support_level": 5,
"aa_start": 700,
"aa_end": null,
"aa_length": 780,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2454G>A",
"hgvs_p": "p.Ala818Ala",
"transcript": "XM_011521041.3",
"protein_id": "XP_011519343.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2454,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 2633,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2445G>A",
"hgvs_p": "p.Ala815Ala",
"transcript": "XM_047429897.1",
"protein_id": "XP_047285853.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2445,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 2624,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "n.2710G>A",
"hgvs_p": null,
"transcript": "ENST00000280663.12",
"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": 5936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"dbsnp": "rs33972365",
"frequency_reference_population": 0.105734415,
"hom_count_reference_population": 10238,
"allele_count_reference_population": 170612,
"gnomad_exomes_af": 0.102586,
"gnomad_genomes_af": 0.135963,
"gnomad_exomes_ac": 149916,
"gnomad_genomes_ac": 20696,
"gnomad_exomes_homalt": 8440,
"gnomad_genomes_homalt": 1798,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.062,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000382722.10",
"gene_symbol": "CACNA2D4",
"hgnc_id": 20202,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.2517G>A",
"hgvs_p": "p.Ala839Ala"
}
],
"clinvar_disease": "Retinal cone dystrophy 4,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4 O:1",
"phenotype_combined": "not provided|not specified|Retinal cone dystrophy 4",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}