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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: 12-53712095-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53712095&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53712095,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020898.3",
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "NM_020898.3",
"protein_id": "NP_065949.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000550804.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020898.3"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "ENST00000550804.6",
"protein_id": "ENSP00000449960.1",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020898.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550804.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.545A>G",
"hgvs_p": "p.Glu182Gly",
"transcript": "ENST00000546443.5",
"protein_id": "ENSP00000456437.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 231,
"cds_start": 545,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546443.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.*1001A>G",
"hgvs_p": null,
"transcript": "ENST00000548263.5",
"protein_id": "ENSP00000447647.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": null,
"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": "ENST00000548263.5"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.Glu661Gly",
"transcript": "ENST00000943517.1",
"protein_id": "ENSP00000613576.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 710,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943517.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1955A>G",
"hgvs_p": "p.Glu652Gly",
"transcript": "ENST00000943523.1",
"protein_id": "ENSP00000613582.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 701,
"cds_start": 1955,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943523.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1931A>G",
"hgvs_p": "p.Glu644Gly",
"transcript": "ENST00000943515.1",
"protein_id": "ENSP00000613574.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 693,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943515.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "ENST00000886084.1",
"protein_id": "ENSP00000556143.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886084.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "ENST00000886090.1",
"protein_id": "ENSP00000556149.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886090.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "ENST00000886096.1",
"protein_id": "ENSP00000556155.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886096.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "ENST00000886097.1",
"protein_id": "ENSP00000556156.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886097.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "ENST00000922935.1",
"protein_id": "ENSP00000592994.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922935.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "ENST00000943519.1",
"protein_id": "ENSP00000613578.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943519.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "ENST00000943520.1",
"protein_id": "ENSP00000613579.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943520.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "ENST00000943524.1",
"protein_id": "ENSP00000613583.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943524.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1925A>G",
"hgvs_p": "p.Glu642Gly",
"transcript": "ENST00000943526.1",
"protein_id": "ENSP00000613585.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 691,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943526.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1922A>G",
"hgvs_p": "p.Glu641Gly",
"transcript": "ENST00000262059.8",
"protein_id": "ENSP00000262059.4",
"transcript_support_level": 2,
"aa_start": 641,
"aa_end": null,
"aa_length": 690,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262059.8"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1922A>G",
"hgvs_p": "p.Glu641Gly",
"transcript": "ENST00000943516.1",
"protein_id": "ENSP00000613575.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 690,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943516.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1919A>G",
"hgvs_p": "p.Glu640Gly",
"transcript": "ENST00000886085.1",
"protein_id": "ENSP00000556144.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 689,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886085.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1919A>G",
"hgvs_p": "p.Glu640Gly",
"transcript": "ENST00000886086.1",
"protein_id": "ENSP00000556145.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 689,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886086.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1919A>G",
"hgvs_p": "p.Glu640Gly",
"transcript": "ENST00000886088.1",
"protein_id": "ENSP00000556147.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 689,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886088.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO1",
"gene_hgnc_id": 29306,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Glu635Gly",
"transcript": "ENST00000886083.1",
"protein_id": "ENSP00000556142.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 684,
"cds_start": 1904,
"cds_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}