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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: 9-92293147-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92293147&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92293147,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000443024.7",
"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": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.-8+464T>A",
"hgvs_p": null,
"transcript": "NM_002161.6",
"protein_id": "NP_002152.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1262,
"cds_start": -4,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": "ENST00000443024.7",
"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": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.-8+464T>A",
"hgvs_p": null,
"transcript": "ENST00000443024.7",
"protein_id": "ENSP00000406448.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1262,
"cds_start": -4,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": "NM_002161.6",
"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": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.-8+294T>A",
"hgvs_p": null,
"transcript": "ENST00000375643.7",
"protein_id": "ENSP00000364794.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1262,
"cds_start": -4,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4656,
"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": 35,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "n.-8+464T>A",
"hgvs_p": null,
"transcript": "ENST00000447699.7",
"protein_id": "ENSP00000415020.3",
"transcript_support_level": 1,
"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": 4587,
"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": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.-8+294T>A",
"hgvs_p": null,
"transcript": "NM_001378569.1",
"protein_id": "NP_001365498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1283,
"cds_start": -4,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4716,
"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": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.-8+464T>A",
"hgvs_p": null,
"transcript": "NM_001378571.1",
"protein_id": "NP_001365500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1269,
"cds_start": -4,
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"cds_length": 3810,
"cdna_start": null,
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"cdna_length": 4504,
"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,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.-8+464T>A",
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"transcript": "NM_001378572.1",
"protein_id": "NP_001365501.1",
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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,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.-8+482T>A",
"hgvs_p": null,
"transcript": "NM_001378573.1",
"protein_id": "NP_001365502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1262,
"cds_start": -4,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 1,
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"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.-55+464T>A",
"hgvs_p": null,
"transcript": "NM_001378574.1",
"protein_id": "NP_001365503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"feature": null
},
{
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],
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"gene_symbol": "IARS1",
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"transcript": "NM_001378575.1",
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},
{
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],
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"gene_symbol": "IARS1",
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"hgvs_c": "c.-88+464T>A",
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}