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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: 2-178873542-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178873542&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178873542,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000443758.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.*4362G>C",
"hgvs_p": null,
"transcript": "ENST00000409284.1",
"protein_id": "ENSP00000386503.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": -4,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6960,
"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": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.1900-1230G>C",
"hgvs_p": null,
"transcript": "NM_173648.4",
"protein_id": "NP_775919.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1530,
"cds_start": -4,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9205,
"mane_select": "ENST00000443758.7",
"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": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.1900-1230G>C",
"hgvs_p": null,
"transcript": "ENST00000443758.7",
"protein_id": "ENSP00000390190.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1530,
"cds_start": -4,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9205,
"mane_select": "NM_173648.4",
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.232-1230G>C",
"hgvs_p": null,
"transcript": "ENST00000343876.6",
"protein_id": "ENSP00000344627.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": -4,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.*4362G>C",
"hgvs_p": null,
"transcript": "NM_001316745.2",
"protein_id": "NP_001303674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": -4,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7038,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC141",
"gene_hgnc_id": 26821,
"hgvs_c": "c.1705-1230G>C",
"hgvs_p": null,
"transcript": "ENST00000446116.5",
"protein_id": "ENSP00000388745.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 627,
"cds_start": -4,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
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"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000287149",
"gene_hgnc_id": null,
"hgvs_c": "n.307-32472C>G",
"hgvs_p": null,
"transcript": "ENST00000652826.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287149",
"gene_hgnc_id": null,
"hgvs_c": "n.294-32472C>G",
"hgvs_p": null,
"transcript": "ENST00000667123.1",
"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": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000287149",
"gene_hgnc_id": null,
"hgvs_c": "n.87-32472C>G",
"hgvs_p": null,
"transcript": "ENST00000667180.1",
"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": 2290,
"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "ENSG00000287149",
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"hgvs_c": "n.294-32472C>G",
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"transcript": "ENST00000846150.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "ENSG00000287149",
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"hgvs_c": "n.240-32472C>G",
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"transcript": "ENST00000846151.1",
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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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],
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"gene_symbol": "CCDC141",
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],
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"transcript": "XM_047443987.1",
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],
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},
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],
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{
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}
],
"message": null
}