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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: X-115622304-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=115622304&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 115622304,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_005032.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "NM_005032.7",
"protein_id": "NP_005023.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355899.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005032.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000355899.8",
"protein_id": "ENSP00000348163.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005032.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355899.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000539310.5",
"protein_id": "ENSP00000445339.2",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539310.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "n.*385T>G",
"hgvs_p": null,
"transcript": "ENST00000489283.5",
"protein_id": "ENSP00000420458.1",
"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": "ENST00000489283.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "n.*385T>G",
"hgvs_p": null,
"transcript": "ENST00000489283.5",
"protein_id": "ENSP00000420458.1",
"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": "ENST00000489283.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000969759.1",
"protein_id": "ENSP00000639818.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 646,
"cds_start": 132,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969759.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000876571.1",
"protein_id": "ENSP00000546630.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 639,
"cds_start": 132,
"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": "ENST00000876571.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000969762.1",
"protein_id": "ENSP00000639821.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 639,
"cds_start": 132,
"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": "ENST00000969762.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000969764.1",
"protein_id": "ENSP00000639823.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 639,
"cds_start": 132,
"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": "ENST00000969764.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000969767.1",
"protein_id": "ENSP00000639826.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 639,
"cds_start": 132,
"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": "ENST00000969767.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000876579.1",
"protein_id": "ENSP00000546638.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 638,
"cds_start": 132,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876579.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "NM_001136025.5",
"protein_id": "NP_001129497.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136025.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "NM_001440791.1",
"protein_id": "NP_001427720.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440791.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "NM_001440792.1",
"protein_id": "NP_001427721.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440792.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000876572.1",
"protein_id": "ENSP00000546631.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876572.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000876573.1",
"protein_id": "ENSP00000546632.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876573.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000876574.1",
"protein_id": "ENSP00000546633.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876574.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000876575.1",
"protein_id": "ENSP00000546634.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876575.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000876576.1",
"protein_id": "ENSP00000546635.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876576.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000876577.1",
"protein_id": "ENSP00000546636.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876577.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000876578.1",
"protein_id": "ENSP00000546637.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876578.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLS3",
"gene_hgnc_id": 9091,
"hgvs_c": "c.132T>G",
"hgvs_p": "p.Ala44Ala",
"transcript": "ENST00000876580.1",
"protein_id": "ENSP00000546639.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 630,
"cds_start": 132,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876580.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
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],
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}