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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: 12-75284965-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=75284965&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CAPS2",
"hgnc_id": 16471,
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001355023.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CAPS2-AS1",
"hgnc_id": 40769,
"hgvs_c": "n.424-10078C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "XR_001749212.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.1718,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.28734514117240906,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5072,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001355024.4",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000699294.1",
"protein_coding": true,
"protein_id": "NP_001341953.2",
"strand": false,
"transcript": "NM_001355024.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5072,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000699294.1",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001355024.4",
"protein_coding": true,
"protein_id": "ENSP00000514274.1",
"strand": false,
"transcript": "ENST00000699294.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 595,
"aa_ref": "R",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000393284.8",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376963.4",
"strand": false,
"transcript": "ENST00000393284.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 468,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000409799.6",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386977.2",
"strand": false,
"transcript": "ENST00000409799.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000328705.7",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "n.*1715G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000331007.3",
"strand": false,
"transcript": "ENST00000328705.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2569,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000336815.10",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "n.*587G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000338474.6",
"strand": false,
"transcript": "ENST00000336815.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409004.5",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "n.1041G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000409004.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000328705.7",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "n.*1715G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000331007.3",
"strand": false,
"transcript": "ENST00000328705.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2569,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000336815.10",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "n.*587G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000338474.6",
"strand": false,
"transcript": "ENST00000336815.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4756,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001355023.4",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341952.2",
"strand": false,
"transcript": "NM_001355023.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000891117.1",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561176.1",
"strand": false,
"transcript": "ENST00000891117.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4855,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000912723.1",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582784.1",
"strand": false,
"transcript": "ENST00000912723.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 563,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000968431.1",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638490.1",
"strand": false,
"transcript": "ENST00000968431.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 2033,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_032606.5",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1568G>A",
"hgvs_p": "p.Arg523Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115995.2",
"strand": false,
"transcript": "NM_032606.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000891113.1",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561172.1",
"strand": false,
"transcript": "ENST00000891113.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000891115.1",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561174.1",
"strand": false,
"transcript": "ENST00000891115.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000891118.1",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561177.1",
"strand": false,
"transcript": "ENST00000891118.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000891121.1",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561180.1",
"strand": false,
"transcript": "ENST00000891121.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2135,
"cdna_start": 1765,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000409445.8",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386959.4",
"strand": false,
"transcript": "ENST00000409445.8",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4582,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968428.1",
"gene_hgnc_id": 16471,
"gene_symbol": "CAPS2",
"hgvs_c": "c.1322G>A",
"hgvs_p": "p.Arg441Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638487.1",
"strand": false,
"transcript": "ENST00000968428.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 528,
"aa_ref": "R",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4752,
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