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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: 12-25104363-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=25104363&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 25104363,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001394803.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001366544.2",
"protein_id": "NP_001353473.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000556887.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366544.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000556887.6",
"protein_id": "ENSP00000451048.2",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366544.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556887.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000354454.7",
"protein_id": "ENSP00000346442.3",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354454.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000547044.5",
"protein_id": "ENSP00000450246.1",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547044.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000557489.6",
"protein_id": "ENSP00000452116.2",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557489.6"
},
{
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "n.1046+305G>A",
"hgvs_p": null,
"transcript": "ENST00000361433.6",
"protein_id": "ENSP00000354805.2",
"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": "ENST00000361433.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.3914G>A",
"hgvs_p": "p.Arg1305His",
"transcript": "ENST00000636465.1",
"protein_id": "ENSP00000489956.1",
"transcript_support_level": 5,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3914,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636465.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.3890G>A",
"hgvs_p": "p.Arg1297His",
"transcript": "NM_001394803.1",
"protein_id": "NP_001381732.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3890,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394803.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001204126.2",
"protein_id": "NP_001191055.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204126.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001204127.2",
"protein_id": "NP_001191056.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204127.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001366540.1",
"protein_id": "NP_001353469.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366540.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001366541.2",
"protein_id": "NP_001353470.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366541.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001366542.2",
"protein_id": "NP_001353471.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366542.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001366543.2",
"protein_id": "NP_001353472.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366543.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001366545.2",
"protein_id": "NP_001353474.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366545.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001366546.2",
"protein_id": "NP_001353475.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366546.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_001366547.2",
"protein_id": "NP_001353476.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366547.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "NM_006152.4",
"protein_id": "NP_006143.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006152.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000548766.5",
"protein_id": "ENSP00000446496.1",
"transcript_support_level": 2,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548766.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000878408.1",
"protein_id": "ENSP00000548467.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878408.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG2",
"gene_hgnc_id": 6690,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000878409.1",
"protein_id": "ENSP00000548468.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878409.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000758573.1",
"gene_symbol": "ENSG00000298872",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.226+3171C>T",
"hgvs_p": null
}
],
"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
}