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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: 12-16357696-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=16357696&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 16357696,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001414355.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_020300.5",
"protein_id": "NP_064696.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000396210.8",
"protein_id": "ENSP00000379513.3",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000396207.1",
"protein_id": "ENSP00000379510.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000535309.5",
"protein_id": "ENSP00000438308.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 87,
"cds_start": 218,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "n.149G>A",
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "NM_001414355.1",
"protein_id": "NP_001401284.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 160,
"cds_start": 233,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_001260511.2",
"protein_id": "NP_001247440.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_001414357.1",
"protein_id": "NP_001401286.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_001414358.1",
"protein_id": "NP_001401287.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_001414359.1",
"protein_id": "NP_001401288.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_145764.3",
"protein_id": "NP_665707.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_145791.3",
"protein_id": "NP_665734.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_145792.3",
"protein_id": "NP_665735.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000010404.6",
"protein_id": "ENSP00000010404.2",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000396209.5",
"protein_id": "ENSP00000379512.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000902096.1",
"protein_id": "ENSP00000572155.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000902097.1",
"protein_id": "ENSP00000572156.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000902098.1",
"protein_id": "ENSP00000572157.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000902099.1",
"protein_id": "ENSP00000572158.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000902100.1",
"protein_id": "ENSP00000572159.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000902101.1",
"protein_id": "ENSP00000572160.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGST1",
"gene_hgnc_id": 7061,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000902102.1",
"protein_id": "ENSP00000572161.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 218,
"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": "ENST00000902102.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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],
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.414,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.164,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001414355.1",
"gene_symbol": "MGST1",
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"effects": [
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"inheritance_mode": "AR",
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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
}