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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: 2-177261818-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177261818&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177261818,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000397062.8",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.45+2714C>A",
"hgvs_p": null,
"transcript": "NM_006164.5",
"protein_id": "NP_006155.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "ENST00000397062.8",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.45+2714C>A",
"hgvs_p": null,
"transcript": "ENST00000397062.8",
"protein_id": "ENSP00000380252.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "NM_006164.5",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.-4+1585C>A",
"hgvs_p": null,
"transcript": "ENST00000397063.9",
"protein_id": "ENSP00000380253.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2992,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.-4+1711C>A",
"hgvs_p": null,
"transcript": "ENST00000421929.6",
"protein_id": "ENSP00000412191.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2522,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.-4+1619C>A",
"hgvs_p": null,
"transcript": "ENST00000448782.6",
"protein_id": "ENSP00000400073.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2312,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.-4+1585C>A",
"hgvs_p": null,
"transcript": "ENST00000446151.6",
"protein_id": "ENSP00000411575.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2399,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.135+1585C>A",
"hgvs_p": null,
"transcript": "ENST00000423513.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 3325,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.135+1585C>A",
"hgvs_p": null,
"transcript": "ENST00000477534.2",
"protein_id": null,
"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": 3589,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.184-27547C>A",
"hgvs_p": null,
"transcript": "ENST00000699346.1",
"protein_id": "ENSP00000514321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
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"cdna_length": 2954,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.43-27547C>A",
"hgvs_p": null,
"transcript": "ENST00000586532.6",
"protein_id": "ENSP00000464920.2",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.43-27547C>A",
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"transcript": "ENST00000699265.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "NFE2L2",
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},
{
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],
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"gene_symbol": "NFE2L2",
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"hgvs_c": "c.43-27547C>A",
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},
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],
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"gene_symbol": "NFE2L2",
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},
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],
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},
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],
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},
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],
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},
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],
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"gene_symbol": "NFE2L2",
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"hgvs_c": "c.43-27547C>A",
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},
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"consequences": [
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],
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"gene_symbol": "NFE2L2",
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"transcript": "ENST00000397062.8",
"gene_symbol": "NFE2L2",
"hgnc_id": 7782,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.45+2714C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}