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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: 1-243227829-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=243227829&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 243227829,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000366542.6",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.-41-2508A>C",
"hgvs_p": null,
"transcript": "NM_014812.3",
"protein_id": "NP_055627.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1584,
"cds_start": -4,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": "ENST00000366542.6",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.-41-2508A>C",
"hgvs_p": null,
"transcript": "ENST00000366542.6",
"protein_id": "ENSP00000355500.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1584,
"cds_start": -4,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": "NM_014812.3",
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.-41-2508A>C",
"hgvs_p": null,
"transcript": "ENST00000366544.6",
"protein_id": "ENSP00000355502.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1486,
"cds_start": -4,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7277,
"mane_select": null,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.-41-2508A>C",
"hgvs_p": null,
"transcript": "ENST00000366543.5",
"protein_id": "ENSP00000355501.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1460,
"cds_start": -4,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6727,
"mane_select": null,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.-41-2508A>C",
"hgvs_p": null,
"transcript": "ENST00000522191.5",
"protein_id": "ENSP00000427944.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"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": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.-41-2508A>C",
"hgvs_p": null,
"transcript": "ENST00000523424.5",
"protein_id": "ENSP00000428183.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 593,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "n.193-2508A>C",
"hgvs_p": null,
"transcript": "ENST00000522522.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1180,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.-41-2508A>C",
"hgvs_p": null,
"transcript": "NM_001042404.2",
"protein_id": "NP_001035863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1486,
"cds_start": -4,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6765,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "c.-41-2508A>C",
"hgvs_p": null,
"transcript": "NM_001042405.2",
"protein_id": "NP_001035864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1460,
"cds_start": -4,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 4,
"intron_rank": 1,
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"gene_symbol": "CEP170",
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"hgvs_c": "c.-41-2508A>C",
"hgvs_p": null,
"transcript": "ENST00000522995.1",
"protein_id": "ENSP00000428400.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "CEP170",
"gene_hgnc_id": 28920,
"hgvs_c": "n.178-2508A>C",
"hgvs_p": null,
"transcript": "ENST00000523581.1",
"protein_id": null,
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},
{
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],
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"hgvs_c": "c.-41-2508A>C",
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"transcript": "XM_006711843.5",
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},
{
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],
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"gene_symbol": "CEP170",
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},
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],
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"gene_symbol": "CEP170",
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],
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},
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],
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],
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"hgvs_c": "c.-42+551A>C",
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"transcript": "XM_047435495.1",
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],
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],
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},
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],
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