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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: 20-35491374-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35491374&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35491374,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000397527.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.2889+28G>A",
"hgvs_p": null,
"transcript": "NM_007186.6",
"protein_id": "NP_009117.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2442,
"cds_start": -4,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15434,
"mane_select": "ENST00000397527.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.2889+28G>A",
"hgvs_p": null,
"transcript": "ENST00000397527.6",
"protein_id": "ENSP00000380661.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2442,
"cds_start": -4,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15434,
"mane_select": "NM_007186.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.3060+28G>A",
"hgvs_p": null,
"transcript": "ENST00000706828.1",
"protein_id": "ENSP00000516576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2499,
"cds_start": -4,
"cds_end": null,
"cds_length": 7500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.2889+28G>A",
"hgvs_p": null,
"transcript": "ENST00000706829.1",
"protein_id": "ENSP00000516577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2415,
"cds_start": -4,
"cds_end": null,
"cds_length": 7248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.2889+28G>A",
"hgvs_p": null,
"transcript": "ENST00000706830.1",
"protein_id": "ENSP00000516578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2332,
"cds_start": -4,
"cds_end": null,
"cds_length": 6999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.993+28G>A",
"hgvs_p": null,
"transcript": "NM_001318219.1",
"protein_id": "NP_001305148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1810,
"cds_start": -4,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7907,
"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": 35,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "n.*684+28G>A",
"hgvs_p": null,
"transcript": "ENST00000706827.1",
"protein_id": "ENSP00000516575.1",
"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": 8168,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "n.296+28G>A",
"hgvs_p": null,
"transcript": "ENST00000706831.1",
"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": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.2889+28G>A",
"hgvs_p": null,
"transcript": "XM_005260262.5",
"protein_id": "XP_005260319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2442,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 35,
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"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.2889+28G>A",
"hgvs_p": null,
"transcript": "XM_006723690.5",
"protein_id": "XP_006723753.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 35,
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"gene_symbol": "CEP250",
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"hgvs_c": "c.2889+28G>A",
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"transcript": "XM_006723691.2",
"protein_id": "XP_006723754.1",
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},
{
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],
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},
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],
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"gene_symbol": "CEP250",
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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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