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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: 17-39175296-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39175296&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39175296,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000723.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565Gln",
"transcript": "NM_000723.5",
"protein_id": "NP_000714.3",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 598,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394303.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000723.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565Gln",
"transcript": "ENST00000394303.8",
"protein_id": "ENSP00000377840.3",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 598,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000723.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394303.8"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "n.3813G>A",
"hgvs_p": null,
"transcript": "ENST00000539338.6",
"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": "ENST00000539338.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1829G>A",
"hgvs_p": "p.Arg610Gln",
"transcript": "ENST00000910733.1",
"protein_id": "ENSP00000580792.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 643,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910733.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1802G>A",
"hgvs_p": "p.Arg601Gln",
"transcript": "ENST00000963643.1",
"protein_id": "ENSP00000633702.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 634,
"cds_start": 1802,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963643.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Arg588Gln",
"transcript": "ENST00000910732.1",
"protein_id": "ENSP00000580791.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 621,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910732.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000963642.1",
"protein_id": "ENSP00000633701.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 616,
"cds_start": 1748,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963642.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Arg578Gln",
"transcript": "ENST00000920599.1",
"protein_id": "ENSP00000590658.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 611,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920599.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1613G>A",
"hgvs_p": "p.Arg538Gln",
"transcript": "ENST00000910734.1",
"protein_id": "ENSP00000580793.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 571,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910734.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533Gln",
"transcript": "ENST00000963641.1",
"protein_id": "ENSP00000633700.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 566,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963641.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1829G>A",
"hgvs_p": "p.Arg610Gln",
"transcript": "XM_005257645.3",
"protein_id": "XP_005257702.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 643,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257645.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566Gln",
"transcript": "XM_017025024.2",
"protein_id": "XP_016880513.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 599,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025024.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"transcript": "XM_006722072.3",
"protein_id": "XP_006722135.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 596,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722072.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518Gln",
"transcript": "XM_017025025.2",
"protein_id": "XP_016880514.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 551,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025025.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"hgvs_c": "c.1010G>A",
"hgvs_p": "p.Arg337Gln",
"transcript": "XM_047436675.1",
"protein_id": "XP_047292631.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 370,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436675.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266101",
"gene_hgnc_id": 58562,
"hgvs_c": "n.273+1734C>T",
"hgvs_p": null,
"transcript": "ENST00000579256.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000579256.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266101",
"gene_hgnc_id": 58562,
"hgvs_c": "n.96-1908C>T",
"hgvs_p": null,
"transcript": "ENST00000831062.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000831062.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266101",
"gene_hgnc_id": 58562,
"hgvs_c": "n.140+579C>T",
"hgvs_p": null,
"transcript": "ENST00000831065.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000831065.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNB1-AS1",
"gene_hgnc_id": 58562,
"hgvs_c": "n.90-567C>T",
"hgvs_p": null,
"transcript": "XR_001753099.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001753099.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CACNB1-AS1",
"gene_hgnc_id": 58562,
"hgvs_c": "n.90-567C>T",
"hgvs_p": null,
"transcript": "XR_934743.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_934743.3"
}
],
"gene_symbol": "CACNB1",
"gene_hgnc_id": 1401,
"dbsnp": "rs779856110",
"frequency_reference_population": 0.000016727754,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000171013,
"gnomad_genomes_af": 0.0000131401,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11440223455429077,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.1095,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.581,
"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_000723.5",
"gene_symbol": "CACNB1",
"hgnc_id": 1401,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1694G>A",
"hgvs_p": "p.Arg565Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000579256.1",
"gene_symbol": "ENSG00000266101",
"hgnc_id": 58562,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.273+1734C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_934743.3",
"gene_symbol": "CACNB1-AS1",
"hgnc_id": 58562,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.90-567C>T",
"hgvs_p": null
}
],
"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
}