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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: 5-103147030-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=103147030&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 103147030,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000358359.8",
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.642+349C>T",
"hgvs_p": null,
"transcript": "NM_001276277.3",
"protein_id": "NP_001263206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": -4,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15369,
"mane_select": "ENST00000358359.8",
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.642+349C>T",
"hgvs_p": null,
"transcript": "ENST00000358359.8",
"protein_id": "ENSP00000351126.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": -4,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15369,
"mane_select": "NM_001276277.3",
"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": 29,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.642+349C>T",
"hgvs_p": null,
"transcript": "ENST00000414217.5",
"protein_id": "ENSP00000416016.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5842,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.642+349C>T",
"hgvs_p": null,
"transcript": "NM_001281471.3",
"protein_id": "NP_001268400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15474,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.642+349C>T",
"hgvs_p": null,
"transcript": "ENST00000613674.4",
"protein_id": "ENSP00000482907.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4933,
"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": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.642+349C>T",
"hgvs_p": null,
"transcript": "ENST00000627916.2",
"protein_id": "ENSP00000486357.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6010,
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.642+349C>T",
"hgvs_p": null,
"transcript": "NM_001345873.2",
"protein_id": "NP_001332802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"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
},
{
"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": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.642+349C>T",
"hgvs_p": null,
"transcript": "NM_015216.5",
"protein_id": "NP_056031.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15306,
"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": 30,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.642+349C>T",
"hgvs_p": null,
"transcript": "ENST00000321521.13",
"protein_id": "ENSP00000313070.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
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"cds_length": 3669,
"cdna_start": null,
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"cdna_length": 15407,
"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "PPIP5K2",
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"hgvs_c": "c.642+349C>T",
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"transcript": "NM_001345872.2",
"protein_id": "NP_001332801.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "PPIP5K2",
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"hgvs_c": "c.642+349C>T",
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"transcript": "NM_001345871.2",
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},
{
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],
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},
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],
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"gene_symbol": "PPIP5K2",
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},
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],
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"gene_symbol": "PPIP5K2",
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},
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],
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"gene_symbol": "PPIP5K2",
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},
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],
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"gene_symbol": "PPIP5K2",
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"hgvs_c": "c.408+349C>T",
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"transcript": "ENST00000507921.5",
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],
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"intron_rank": 6,
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"gene_symbol": "PPIP5K2",
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"hgvs_c": "c.642+349C>T",
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},
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],
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"intron_rank": 6,
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"gene_symbol": "PPIP5K2",
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"hgvs_c": "c.642+349C>T",
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"transcript": "XM_047417006.1",
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