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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: 9-33799372-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=33799372&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 33799372,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NR_170201.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.296+415A>G",
"hgvs_p": null,
"transcript": "ENST00000454429.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.1295+415A>G",
"hgvs_p": null,
"transcript": "ENST00000668091.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.1400+415A>G",
"hgvs_p": null,
"transcript": "ENST00000669609.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.235+415A>G",
"hgvs_p": null,
"transcript": "ENST00000705030.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.337+415A>G",
"hgvs_p": null,
"transcript": "ENST00000723661.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.369+415A>G",
"hgvs_p": null,
"transcript": "NR_170201.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.373+411A>G",
"hgvs_p": null,
"transcript": "NR_170202.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.369+415A>G",
"hgvs_p": null,
"transcript": "NR_170203.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.373+411A>G",
"hgvs_p": null,
"transcript": "NR_170204.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.369+415A>G",
"hgvs_p": null,
"transcript": "NR_170205.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.369+415A>G",
"hgvs_p": null,
"transcript": "NR_170206.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.373+411A>G",
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"transcript": "NR_170207.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.373+411A>G",
"hgvs_p": null,
"transcript": "NR_170208.1",
"protein_id": null,
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"aa_length": null,
"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "UBE2R2-AS1",
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"hgvs_c": "n.369+415A>G",
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"transcript": "NR_170209.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "UBE2R2-AS1",
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"hgvs_c": "n.369+415A>G",
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"transcript": "NR_170210.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.369+415A>G",
"hgvs_p": null,
"transcript": "NR_170211.1",
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},
{
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],
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "UBE2R2-AS1",
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"hgvs_c": "n.369+415A>G",
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"transcript": "NR_170213.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.272+415A>G",
"hgvs_p": null,
"transcript": "NR_170215.1",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.369+415A>G",
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"transcript": "NR_170216.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.*192T>C",
"hgvs_p": null,
"transcript": "NM_002771.4",
"protein_id": "NP_002762.3",
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"mane_select": "ENST00000379405.4",
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"biotype": null,
"feature": null
},
{
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.*192T>C",
"hgvs_p": null,
"transcript": "ENST00000379405.4",
"protein_id": "ENSP00000368715.3",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 247,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 808,
"mane_select": "NM_002771.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.*192T>C",
"hgvs_p": null,
"transcript": "ENST00000342836.9",
"protein_id": "ENSP00000340889.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
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"cds_length": 780,
"cdna_start": null,
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"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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],
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"phylop100way_prediction": "Benign",
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{
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"BA1"
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"verdict": "Benign",
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{
"score": -14,
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"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379405.4",
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}