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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: 12-75347659-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=75347659&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 75347659,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001304964.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR1L1",
"gene_hgnc_id": 28392,
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Val153Ala",
"transcript": "NM_001304964.2",
"protein_id": "NP_001291893.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 242,
"cds_start": 458,
"cds_end": null,
"cds_length": 729,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": "ENST00000378695.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304964.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR1L1",
"gene_hgnc_id": 28392,
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Val153Ala",
"transcript": "ENST00000378695.9",
"protein_id": "ENSP00000367967.4",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 242,
"cds_start": 458,
"cds_end": null,
"cds_length": 729,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": "NM_001304964.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378695.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR1L1",
"gene_hgnc_id": 28392,
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Val153Ala",
"transcript": "ENST00000312442.2",
"protein_id": "ENSP00000310770.2",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 233,
"cds_start": 458,
"cds_end": null,
"cds_length": 702,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312442.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.*372-22371A>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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.34-26083A>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": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR1L1",
"gene_hgnc_id": 28392,
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Val153Ala",
"transcript": "NM_152779.4",
"protein_id": "NP_689992.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 233,
"cds_start": 458,
"cds_end": null,
"cds_length": 702,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152779.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR1L1",
"gene_hgnc_id": 28392,
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Val153Ala",
"transcript": "XM_011538134.4",
"protein_id": "XP_011536436.3",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 216,
"cds_start": 458,
"cds_end": null,
"cds_length": 651,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538134.4"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-29-21132A>G",
"hgvs_p": null,
"transcript": "NM_001355023.4",
"protein_id": "NP_001341952.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": null,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355023.4"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-29-21132A>G",
"hgvs_p": null,
"transcript": "ENST00000891113.1",
"protein_id": "ENSP00000561172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891113.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-84-6541A>G",
"hgvs_p": null,
"transcript": "ENST00000891115.1",
"protein_id": "ENSP00000561174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891115.1"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-130-21132A>G",
"hgvs_p": null,
"transcript": "NM_001355025.2",
"protein_id": "NP_001341954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 528,
"cds_start": null,
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"cds_length": 1587,
"cdna_start": null,
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"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355025.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-29-21132A>G",
"hgvs_p": null,
"transcript": "ENST00000891116.1",
"protein_id": "ENSP00000561175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
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"cds_length": 1578,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891116.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.34-26083A>G",
"hgvs_p": null,
"transcript": "NM_001355026.2",
"protein_id": "NP_001341955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": null,
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"cds_length": 1434,
"cdna_start": null,
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"cdna_length": 4376,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001355026.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-125-21132A>G",
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"transcript": "NM_001355027.2",
"protein_id": "NP_001341956.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001355027.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-29-21132A>G",
"hgvs_p": null,
"transcript": "ENST00000891114.1",
"protein_id": "ENSP00000561173.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000891114.1"
},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 3,
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"gene_symbol": "CAPS2",
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"hgvs_c": "c.-472-22371A>G",
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"transcript": "NM_001286548.3",
"protein_id": "NP_001273477.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001286548.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-376-26083A>G",
"hgvs_p": null,
"transcript": "NM_001355030.2",
"protein_id": "NP_001341959.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 382,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355030.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-394-24437A>G",
"hgvs_p": null,
"transcript": "NM_001355031.2",
"protein_id": "NP_001341960.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001355031.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-536-24437A>G",
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"transcript": "NM_001355032.2",
"protein_id": "NP_001341961.1",
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"biotype": "protein_coding",
"feature": "NM_001355032.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-349+23420A>G",
"hgvs_p": null,
"transcript": "NM_001355033.2",
"protein_id": "NP_001341962.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "NM_001355033.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.34-26083A>G",
"hgvs_p": null,
"transcript": "ENST00000552497.5",
"protein_id": "ENSP00000449797.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 186,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552497.5"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.-394-24437A>G",
"hgvs_p": null,
"transcript": "ENST00000551829.5",
"protein_id": "ENSP00000447737.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 32,
"cds_start": null,
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"cds_length": 101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551829.5"
},
{
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"canonical": false,
"protein_coding": true,
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{
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"phenotype_combined": "not specified",
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}
],
"message": null
}