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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: 22-29232752-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29232752&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29232752,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000334018.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000473933.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 2036,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.823+350C>T",
"hgvs_p": null,
"transcript": "NM_133455.4",
"protein_id": "NP_597712.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": "ENST00000334018.11",
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.823+350C>T",
"hgvs_p": null,
"transcript": "ENST00000334018.11",
"protein_id": "ENSP00000335481.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": "NM_133455.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "n.1203C>T",
"hgvs_p": null,
"transcript": "XR_937810.4",
"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": 1304,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.823+350C>T",
"hgvs_p": null,
"transcript": "NM_001410828.1",
"protein_id": "NP_001397757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2134,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.823+350C>T",
"hgvs_p": null,
"transcript": "ENST00000404820.7",
"protein_id": "ENSP00000384452.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2118,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.817+350C>T",
"hgvs_p": null,
"transcript": "NM_001267895.2",
"protein_id": "NP_001254824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2122,
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.823+350C>T",
"hgvs_p": null,
"transcript": "ENST00000404755.7",
"protein_id": "ENSP00000385414.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2049,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.409+350C>T",
"hgvs_p": null,
"transcript": "ENST00000433143.1",
"protein_id": "ENSP00000408339.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 707,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.587-627C>T",
"hgvs_p": null,
"transcript": "ENST00000429226.5",
"protein_id": "ENSP00000403816.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 769,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "n.626+350C>T",
"hgvs_p": null,
"transcript": "ENST00000484039.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "n.67+350C>T",
"hgvs_p": null,
"transcript": "ENST00000488820.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.874+350C>T",
"hgvs_p": null,
"transcript": "XM_011529868.4",
"protein_id": "XP_011528170.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 462,
"cds_start": -4,
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"cdna_start": null,
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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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.874+350C>T",
"hgvs_p": null,
"transcript": "XM_011529869.4",
"protein_id": "XP_011528171.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "EMID1",
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"hgvs_c": "c.874+350C>T",
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"transcript": "XM_011529870.4",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.790+350C>T",
"hgvs_p": null,
"transcript": "XM_011529871.4",
"protein_id": "XP_011528173.1",
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},
{
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],
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"gene_symbol": "EMID1",
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"hgvs_c": "c.790+350C>T",
"hgvs_p": null,
"transcript": "XM_047441133.1",
"protein_id": "XP_047297089.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.874+350C>T",
"hgvs_p": null,
"transcript": "XM_011529872.4",
"protein_id": "XP_011528174.1",
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.823+350C>T",
"hgvs_p": null,
"transcript": "XM_047441134.1",
"protein_id": "XP_047297090.1",
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},
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],
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"intron_rank": 9,
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"gene_symbol": "EMID1",
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"hgvs_c": "c.874+350C>T",
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EMID1",
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"hgvs_c": "c.739+350C>T",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.739+350C>T",
"hgvs_p": null,
"transcript": "XM_047441135.1",
"protein_id": "XP_047297091.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EMID1",
"gene_hgnc_id": 18036,
"hgvs_c": "c.823+350C>T",
"hgvs_p": null,
"transcript": "XM_047441136.1",
"protein_id": "XP_047297092.1",
"transcript_support_level": null,
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"cdna_start": null,
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},
{
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{
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}
],
"message": null
}