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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: 11-61368609-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61368609&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61368609,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016464.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Tyr130Cys",
"transcript": "NM_016464.5",
"protein_id": "NP_057548.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 162,
"cds_start": 389,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278826.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016464.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Tyr130Cys",
"transcript": "ENST00000278826.11",
"protein_id": "ENSP00000278826.5",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 162,
"cds_start": 389,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016464.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278826.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.*2375A>G",
"hgvs_p": null,
"transcript": "ENST00000542946.2",
"protein_id": "ENSP00000445792.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542946.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "n.*600A>G",
"hgvs_p": null,
"transcript": "ENST00000543594.6",
"protein_id": "ENSP00000509354.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000543594.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "n.*600A>G",
"hgvs_p": null,
"transcript": "ENST00000543594.6",
"protein_id": "ENSP00000509354.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000543594.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Tyr132Cys",
"transcript": "ENST00000886939.1",
"protein_id": "ENSP00000556998.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 164,
"cds_start": 395,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886939.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Tyr130Cys",
"transcript": "ENST00000692219.1",
"protein_id": "ENSP00000510149.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 162,
"cds_start": 389,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692219.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Tyr130Cys",
"transcript": "ENST00000886940.1",
"protein_id": "ENSP00000556999.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 162,
"cds_start": 389,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886940.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Tyr130Cys",
"transcript": "ENST00000886941.1",
"protein_id": "ENSP00000557000.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 162,
"cds_start": 389,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886941.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Tyr130Cys",
"transcript": "ENST00000928756.1",
"protein_id": "ENSP00000598815.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 162,
"cds_start": 389,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928756.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Tyr130Cys",
"transcript": "ENST00000928757.1",
"protein_id": "ENSP00000598816.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 162,
"cds_start": 389,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928757.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Tyr130Cys",
"transcript": "ENST00000928758.1",
"protein_id": "ENSP00000598817.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 162,
"cds_start": 389,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928758.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "NM_001441180.1",
"protein_id": "NP_001428109.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 161,
"cds_start": 386,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441180.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Tyr72Cys",
"transcript": "NM_001330281.2",
"protein_id": "NP_001317210.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 104,
"cds_start": 215,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330281.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Tyr72Cys",
"transcript": "ENST00000381787.2",
"protein_id": "ENSP00000371206.2",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 104,
"cds_start": 215,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381787.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.*152A>G",
"hgvs_p": null,
"transcript": "ENST00000692667.1",
"protein_id": "ENSP00000510180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.*152A>G",
"hgvs_p": null,
"transcript": "ENST00000685597.1",
"protein_id": "ENSP00000509403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.*453A>G",
"hgvs_p": null,
"transcript": "NM_001410999.1",
"protein_id": "NP_001397928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": null,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410999.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.*453A>G",
"hgvs_p": null,
"transcript": "ENST00000692785.1",
"protein_id": "ENSP00000509310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": null,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.*734A>G",
"hgvs_p": null,
"transcript": "ENST00000507563.7",
"protein_id": "ENSP00000510363.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507563.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.*2440A>G",
"hgvs_p": null,
"transcript": "ENST00000689882.1",
"protein_id": "ENSP00000509351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM138",
"gene_hgnc_id": 26944,
"hgvs_c": "c.376+611A>G",
"hgvs_p": null,
"transcript": "NM_001441181.1",
"protein_id": "NP_001428110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441181.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"phenotype_combined": "Joubert syndrome 16|Joubert syndrome and related disorders",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}