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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: 12-16363905-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=16363905&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 16363905,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001414355.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "NM_020300.5",
"protein_id": "NP_064696.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396210.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020300.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "ENST00000396210.8",
"protein_id": "ENSP00000379513.3",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020300.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396210.8"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "ENST00000396207.1",
"protein_id": "ENSP00000379510.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396207.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.221+6206T>C",
"hgvs_p": null,
"transcript": "ENST00000535309.5",
"protein_id": "ENSP00000438308.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535309.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.153-3420T>C",
"hgvs_p": null,
"transcript": "ENST00000542256.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000542256.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Val116Ala",
"transcript": "NM_001414355.1",
"protein_id": "NP_001401284.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 160,
"cds_start": 347,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414355.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Val113Ala",
"transcript": "NM_001414356.1",
"protein_id": "NP_001401285.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 157,
"cds_start": 338,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414356.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "NM_001260511.2",
"protein_id": "NP_001247440.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260511.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "NM_001414357.1",
"protein_id": "NP_001401286.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414357.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "NM_001414358.1",
"protein_id": "NP_001401287.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414358.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "NM_001414359.1",
"protein_id": "NP_001401288.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414359.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "NM_145764.3",
"protein_id": "NP_665707.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145764.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "NM_145791.3",
"protein_id": "NP_665734.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145791.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "NM_145792.3",
"protein_id": "NP_665735.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145792.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "ENST00000010404.6",
"protein_id": "ENSP00000010404.2",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000010404.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "ENST00000396209.5",
"protein_id": "ENSP00000379512.1",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396209.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "ENST00000902096.1",
"protein_id": "ENSP00000572155.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902096.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "ENST00000902097.1",
"protein_id": "ENSP00000572156.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902097.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "ENST00000902098.1",
"protein_id": "ENSP00000572157.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902098.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "ENST00000902099.1",
"protein_id": "ENSP00000572158.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902099.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "ENST00000902100.1",
"protein_id": "ENSP00000572159.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902100.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.332T>C",
"hgvs_p": "p.Val111Ala",
"transcript": "ENST00000902101.1",
"protein_id": "ENSP00000572160.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 155,
"cds_start": 332,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902101.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}