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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: 12-9287039-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=9287039&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 9287039,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NR_024374.1",
"consequences": [
{
"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": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DDX12B",
"gene_hgnc_id": 38668,
"hgvs_c": "n.184-1163T>C",
"hgvs_p": null,
"transcript": "ENST00000539757.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": "transcribed_unprocessed_pseudogene",
"feature": "ENST00000539757.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295087",
"gene_hgnc_id": null,
"hgvs_c": "n.255-1163T>C",
"hgvs_p": null,
"transcript": "ENST00000727879.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727879.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295087",
"gene_hgnc_id": null,
"hgvs_c": "n.174-1163T>C",
"hgvs_p": null,
"transcript": "ENST00000727880.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727880.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295087",
"gene_hgnc_id": null,
"hgvs_c": "n.130-1163T>C",
"hgvs_p": null,
"transcript": "ENST00000727881.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727881.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295087",
"gene_hgnc_id": null,
"hgvs_c": "n.111-1163T>C",
"hgvs_p": null,
"transcript": "ENST00000727882.1",
"protein_id": null,
"transcript_support_level": null,
"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": 830,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727882.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295087",
"gene_hgnc_id": null,
"hgvs_c": "n.102-720T>C",
"hgvs_p": null,
"transcript": "ENST00000727883.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727883.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295087",
"gene_hgnc_id": null,
"hgvs_c": "n.225-1163T>C",
"hgvs_p": null,
"transcript": "ENST00000727884.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727884.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295087",
"gene_hgnc_id": null,
"hgvs_c": "n.214-1163T>C",
"hgvs_p": null,
"transcript": "ENST00000727885.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727885.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295087",
"gene_hgnc_id": null,
"hgvs_c": "n.92-1236T>C",
"hgvs_p": null,
"transcript": "ENST00000727886.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727886.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "ENSG00000295087",
"gene_hgnc_id": null,
"hgvs_c": "n.92-1163T>C",
"hgvs_p": null,
"transcript": "ENST00000727887.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2229,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000727887.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "ENSG00000295087",
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"hgvs_c": "n.148-1163T>C",
"hgvs_p": null,
"transcript": "ENST00000727888.1",
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"cdna_length": 1179,
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"biotype": "pseudogene",
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},
{
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"strand": true,
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],
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"gene_symbol": "ENSG00000295087",
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"transcript": "ENST00000727889.1",
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},
{
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],
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"gene_symbol": "ENSG00000295087",
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"hgvs_c": "n.130-1236T>C",
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},
{
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],
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"gene_symbol": "ENSG00000295087",
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},
{
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],
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"feature": "ENST00000727892.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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},
{
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],
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},
{
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"strand": true,
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],
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"gene_symbol": "ENSG00000295087",
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"hgvs_c": "n.238-1236T>C",
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"transcript": "ENST00000727895.1",
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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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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "ENSG00000295087",
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"hgvs_c": "n.83-1236T>C",
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"biotype": "pseudogene",
"feature": "ENST00000727899.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ENSG00000295087",
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"hgvs_c": "n.133-1163T>C",
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}
],
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}