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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: 11-3360517-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3360517&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3360517,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001130520.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "NM_001130520.3",
"protein_id": "NP_001123992.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 629,
"cds_start": 491,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399602.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130520.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000399602.9",
"protein_id": "ENSP00000382511.4",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 629,
"cds_start": 491,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130520.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399602.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Gln141Arg",
"transcript": "ENST00000005082.13",
"protein_id": "ENSP00000005082.9",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 606,
"cds_start": 422,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000005082.13"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.275A>G",
"hgvs_p": "p.Gln92Arg",
"transcript": "ENST00000354599.10",
"protein_id": "ENSP00000346613.6",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 557,
"cds_start": 275,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354599.10"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Gln119Arg",
"transcript": "ENST00000528410.5",
"protein_id": "ENSP00000431937.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 277,
"cds_start": 356,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528410.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Gln174Arg",
"transcript": "ENST00000941946.1",
"protein_id": "ENSP00000612005.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 639,
"cds_start": 521,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941946.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Gln168Arg",
"transcript": "ENST00000620374.4",
"protein_id": "ENSP00000477630.1",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 633,
"cds_start": 503,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620374.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "ENST00000928996.1",
"protein_id": "ENSP00000599055.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 626,
"cds_start": 482,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928996.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Gln145Arg",
"transcript": "NM_001242841.2",
"protein_id": "NP_001229770.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 610,
"cds_start": 434,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242841.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Gln145Arg",
"transcript": "ENST00000526601.5",
"protein_id": "ENSP00000435828.1",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 610,
"cds_start": 434,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526601.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Gln141Arg",
"transcript": "NM_001130519.3",
"protein_id": "NP_001123991.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 606,
"cds_start": 422,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130519.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.380A>G",
"hgvs_p": "p.Gln127Arg",
"transcript": "NM_001256824.2",
"protein_id": "NP_001243753.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 592,
"cds_start": 380,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256824.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Gln123Arg",
"transcript": "ENST00000928995.1",
"protein_id": "ENSP00000599054.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 588,
"cds_start": 368,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928995.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.356A>G",
"hgvs_p": "p.Gln119Arg",
"transcript": "NM_001242842.2",
"protein_id": "NP_001229771.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 584,
"cds_start": 356,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242842.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Gln115Arg",
"transcript": "ENST00000859310.1",
"protein_id": "ENSP00000529369.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 580,
"cds_start": 344,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859310.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.Gln102Arg",
"transcript": "ENST00000941947.1",
"protein_id": "ENSP00000612006.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 567,
"cds_start": 305,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941947.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "NM_001242843.2",
"protein_id": "NP_001229772.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 561,
"cds_start": 287,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242843.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "NM_001256825.2",
"protein_id": "NP_001243754.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 561,
"cds_start": 287,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256825.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "ENST00000343338.11",
"protein_id": "ENSP00000344483.7",
"transcript_support_level": 4,
"aa_start": 96,
"aa_end": null,
"aa_length": 561,
"cds_start": 287,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343338.11"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Gln96Arg",
"transcript": "ENST00000429541.6",
"protein_id": "ENSP00000387998.2",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 561,
"cds_start": 287,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429541.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.275A>G",
"hgvs_p": "p.Gln92Arg",
"transcript": "NM_007152.5",
"protein_id": "NP_009083.2",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 557,
"cds_start": 275,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007152.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF195",
"gene_hgnc_id": 12986,
"hgvs_c": "c.479A>G",
"hgvs_p": "p.Gln160Arg",
"transcript": "ENST00000533036.5",
"protein_id": "ENSP00000433911.1",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 216,
"cds_start": 479,
"cds_end": null,
"cds_length": 652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533036.5"
},
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{
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"verdict": "Uncertain_significance",
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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
}