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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: 13-43883789-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=43883789&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 43883789,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_153218.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_153218.4",
"protein_id": "NP_694950.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325686.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153218.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000325686.7",
"protein_id": "ENSP00000317619.5",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153218.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325686.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.829A>G",
"hgvs_p": "p.Ile277Val",
"transcript": "ENST00000851305.1",
"protein_id": "ENSP00000521364.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 453,
"cds_start": 829,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851305.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.829A>G",
"hgvs_p": "p.Ile277Val",
"transcript": "ENST00000962492.1",
"protein_id": "ENSP00000632551.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 453,
"cds_start": 829,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962492.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001128303.2",
"protein_id": "NP_001121775.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128303.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350638.2",
"protein_id": "NP_001337567.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350638.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350639.2",
"protein_id": "NP_001337568.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350639.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350640.2",
"protein_id": "NP_001337569.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350640.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350641.2",
"protein_id": "NP_001337570.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350641.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "NM_001350642.2",
"protein_id": "NP_001337571.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350642.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000441843.5",
"protein_id": "ENSP00000391747.1",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441843.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851291.1",
"protein_id": "ENSP00000521350.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851291.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851292.1",
"protein_id": "ENSP00000521351.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851292.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851293.1",
"protein_id": "ENSP00000521352.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851293.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851294.1",
"protein_id": "ENSP00000521353.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851294.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851295.1",
"protein_id": "ENSP00000521354.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851295.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851296.1",
"protein_id": "ENSP00000521355.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851296.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851297.1",
"protein_id": "ENSP00000521356.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851297.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851298.1",
"protein_id": "ENSP00000521357.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851298.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851299.1",
"protein_id": "ENSP00000521358.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851299.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851300.1",
"protein_id": "ENSP00000521359.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851300.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LACC1",
"gene_hgnc_id": 26789,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Ile254Val",
"transcript": "ENST00000851301.1",
"protein_id": "ENSP00000521360.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 430,
"cds_start": 760,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Juvenile arthritis due to defect in LACC1|Leprosy, susceptibility to, 1|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}