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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: 4-8428090-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=8428090&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 8428090,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000356406.10",
"consequences": [
{
"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": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-14-11555T>G",
"hgvs_p": null,
"transcript": "NM_003501.3",
"protein_id": "NP_003492.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": "ENST00000356406.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-14-11555T>G",
"hgvs_p": null,
"transcript": "ENST00000356406.10",
"protein_id": "ENSP00000348775.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": "NM_003501.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-15+261T>G",
"hgvs_p": null,
"transcript": "ENST00000503233.5",
"protein_id": "ENSP00000421625.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-14-11555T>G",
"hgvs_p": null,
"transcript": "ENST00000413009.6",
"protein_id": "ENSP00000413994.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-15+261T>G",
"hgvs_p": null,
"transcript": "NM_001375783.1",
"protein_id": "NP_001362712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-14-11555T>G",
"hgvs_p": null,
"transcript": "NM_001375784.1",
"protein_id": "NP_001362713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": -4,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-14-11555T>G",
"hgvs_p": null,
"transcript": "NM_001375785.1",
"protein_id": "NP_001362714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 671,
"cds_start": -4,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
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"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-15+261T>G",
"hgvs_p": null,
"transcript": "NM_001375786.1",
"protein_id": "NP_001362715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 671,
"cds_start": -4,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-15+261T>G",
"hgvs_p": null,
"transcript": "NM_001375787.1",
"protein_id": "NP_001362716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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,
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"gene_symbol": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-14-11555T>G",
"hgvs_p": null,
"transcript": "NM_001101667.2",
"protein_id": "NP_001095137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
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"cds_length": 1875,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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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": "ACOX3",
"gene_hgnc_id": 121,
"hgvs_c": "c.-15+261T>G",
"hgvs_p": null,
"transcript": "NM_001375788.1",
"protein_id": "NP_001362717.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "ACOX3",
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"hgvs_c": "c.-142+261T>G",
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"transcript": "NM_001375789.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "ACOX3",
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"hgvs_c": "c.-15+217T>G",
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"transcript": "NM_001375790.1",
"protein_id": "NP_001362719.1",
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},
{
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],
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"gene_symbol": "ACOX3",
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"hgvs_c": "c.-142+261T>G",
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"transcript": "ENST00000514423.1",
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},
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],
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"hgvs_c": "c.-15+7833T>G",
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"transcript": "XM_011513565.3",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "ACOX3",
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"hgvs_c": "c.-15+261T>G",
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"transcript": "XM_047416229.1",
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},
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],
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"hgvs_c": "c.-15+261T>G",
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},
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],
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"gene_symbol": "ACOX3",
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"hgvs_c": "c.-15+261T>G",
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"transcript": "XM_011513566.2",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "ACOX3",
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],
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],
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],
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"gene_symbol": "ACOX3",
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"hgvs_c": "c.-142+261T>G",
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"transcript": "XM_047416234.1",
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},
{
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"protein_coding": false,
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],
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "ACOX3",
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"hgvs_c": "n.98+261T>G",
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"transcript": "XR_007057968.1",
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],
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}