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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: 12-1832290-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=1832290&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 1832290,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000382722.10",
"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": 38,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2551+8449A>C",
"hgvs_p": null,
"transcript": "NM_172364.5",
"protein_id": "NP_758952.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1137,
"cds_start": -4,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": "ENST00000382722.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2551+8449A>C",
"hgvs_p": null,
"transcript": "ENST00000382722.10",
"protein_id": "ENSP00000372169.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1137,
"cds_start": -4,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": "NM_172364.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LRTM2",
"gene_hgnc_id": 32443,
"hgvs_c": "c.658+765T>G",
"hgvs_p": null,
"transcript": "NM_001039029.3",
"protein_id": "NP_001034118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": "ENST00000299194.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LRTM2",
"gene_hgnc_id": 32443,
"hgvs_c": "c.658+765T>G",
"hgvs_p": null,
"transcript": "ENST00000299194.6",
"protein_id": "ENSP00000299194.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": "NM_001039029.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2551+8449A>C",
"hgvs_p": null,
"transcript": "ENST00000586184.5",
"protein_id": "ENSP00000465060.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1154,
"cds_start": -4,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2476+8449A>C",
"hgvs_p": null,
"transcript": "ENST00000587995.5",
"protein_id": "ENSP00000465372.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1112,
"cds_start": -4,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2359+8449A>C",
"hgvs_p": null,
"transcript": "ENST00000585708.5",
"protein_id": "ENSP00000467697.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1090,
"cds_start": -4,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2359+8449A>C",
"hgvs_p": null,
"transcript": "ENST00000588077.5",
"protein_id": "ENSP00000468530.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": -4,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LRTM2",
"gene_hgnc_id": 32443,
"hgvs_c": "c.658+765T>G",
"hgvs_p": null,
"transcript": "ENST00000535041.5",
"protein_id": "ENSP00000444737.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "n.*797+8449A>C",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "n.391+8449A>C",
"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": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2134+8449A>C",
"hgvs_p": null,
"transcript": "ENST00000585732.1",
"protein_id": "ENSP00000468080.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": -4,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LRTM2",
"gene_hgnc_id": 32443,
"hgvs_c": "c.658+765T>G",
"hgvs_p": null,
"transcript": "NM_001163925.2",
"protein_id": "NP_001157397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
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"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LRTM2",
"gene_hgnc_id": 32443,
"hgvs_c": "c.658+765T>G",
"hgvs_p": null,
"transcript": "NM_001163926.2",
"protein_id": "NP_001157398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LRTM2",
"gene_hgnc_id": 32443,
"hgvs_c": "c.658+765T>G",
"hgvs_p": null,
"transcript": "ENST00000543818.5",
"protein_id": "ENSP00000446278.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "n.2744+8449A>C",
"hgvs_p": null,
"transcript": "ENST00000280663.12",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRTM2",
"gene_hgnc_id": 32443,
"hgvs_c": "n.306-1977T>G",
"hgvs_p": null,
"transcript": "ENST00000543730.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2488+8449A>C",
"hgvs_p": null,
"transcript": "XM_011521041.3",
"protein_id": "XP_011519343.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 1133,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"hgvs_c": "c.2479+8449A>C",
"hgvs_p": null,
"transcript": "XM_047429897.1",
"protein_id": "XP_047285853.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRTM2",
"gene_hgnc_id": 32443,
"hgvs_c": "c.829+765T>G",
"hgvs_p": null,
"transcript": "XM_047429421.1",
"protein_id": "XP_047285377.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LRTM2",
"gene_hgnc_id": 32443,
"hgvs_c": "c.658+765T>G",
"hgvs_p": null,
"transcript": "XM_011521015.2",
"protein_id": "XP_011519317.1",
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"cdna_start": null,
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"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA2D4",
"gene_hgnc_id": 20202,
"dbsnp": "rs4765847",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"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": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.603,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000382722.10",
"gene_symbol": "CACNA2D4",
"hgnc_id": 20202,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.2551+8449A>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000299194.6",
"gene_symbol": "LRTM2",
"hgnc_id": 32443,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.658+765T>G",
"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
}