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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: 12-75285073-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=75285073&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 75285073,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001355023.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Glu430Gly",
"transcript": "NM_001355024.4",
"protein_id": "NP_001341953.2",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 557,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": "ENST00000699294.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355024.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Glu430Gly",
"transcript": "ENST00000699294.1",
"protein_id": "ENSP00000514274.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 557,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": "NM_001355024.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699294.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Glu468Gly",
"transcript": "ENST00000393284.8",
"protein_id": "ENSP00000376963.4",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 595,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393284.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1193A>G",
"hgvs_p": "p.Glu398Gly",
"transcript": "ENST00000409799.6",
"protein_id": "ENSP00000386977.2",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 468,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409799.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.*1607A>G",
"hgvs_p": null,
"transcript": "ENST00000328705.7",
"protein_id": "ENSP00000331007.3",
"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": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000328705.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.*479A>G",
"hgvs_p": null,
"transcript": "ENST00000336815.10",
"protein_id": "ENSP00000338474.6",
"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": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000336815.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.933A>G",
"hgvs_p": null,
"transcript": "ENST00000409004.5",
"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": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000409004.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.*1607A>G",
"hgvs_p": null,
"transcript": "ENST00000328705.7",
"protein_id": "ENSP00000331007.3",
"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": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000328705.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.*479A>G",
"hgvs_p": null,
"transcript": "ENST00000336815.10",
"protein_id": "ENSP00000338474.6",
"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": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000336815.10"
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1305A>G",
"hgvs_p": "p.Ter435Trpext*?",
"transcript": "XM_011538890.2",
"protein_id": "XP_011537192.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 434,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538890.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Glu436Gly",
"transcript": "NM_001355023.4",
"protein_id": "NP_001341952.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 563,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 4756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355023.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Glu436Gly",
"transcript": "ENST00000891117.1",
"protein_id": "ENSP00000561176.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 563,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891117.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Glu436Gly",
"transcript": "ENST00000912723.1",
"protein_id": "ENSP00000582784.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 563,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912723.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Glu436Gly",
"transcript": "ENST00000968431.1",
"protein_id": "ENSP00000638490.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 563,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968431.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Glu487Gly",
"transcript": "NM_032606.5",
"protein_id": "NP_115995.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 557,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032606.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Glu430Gly",
"transcript": "ENST00000891113.1",
"protein_id": "ENSP00000561172.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 557,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891113.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Glu430Gly",
"transcript": "ENST00000891115.1",
"protein_id": "ENSP00000561174.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 557,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891115.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Glu430Gly",
"transcript": "ENST00000891118.1",
"protein_id": "ENSP00000561177.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 557,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891118.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Glu430Gly",
"transcript": "ENST00000891121.1",
"protein_id": "ENSP00000561180.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 557,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891121.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Glu468Gly",
"transcript": "ENST00000409445.8",
"protein_id": "ENSP00000386959.4",
"transcript_support_level": 2,
"aa_start": 468,
"aa_end": null,
"aa_length": 538,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409445.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Glu405Gly",
"transcript": "ENST00000968428.1",
"protein_id": "ENSP00000638487.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 532,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968428.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1202A>G",
"hgvs_p": "p.Glu401Gly",
"transcript": "NM_001355025.2",
"protein_id": "NP_001341954.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 528,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1456,
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"phylop100way_prediction": "Uncertain_significance",
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{
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"PP3"
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"verdict": "Uncertain_significance",
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{
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],
"verdict": "Uncertain_significance",
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],
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}
],
"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
}