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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: 11-68541640-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68541640&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68541640,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000393800.7",
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "NM_001164161.2",
"protein_id": "NP_001157633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 873,
"cds_start": -4,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": "ENST00000393800.7",
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "ENST00000393800.7",
"protein_id": "ENSP00000377389.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 873,
"cds_start": -4,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": "NM_001164161.2",
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "ENST00000393801.7",
"protein_id": "ENSP00000377390.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": -4,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5069,
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "ENST00000524904.5",
"protein_id": "ENSP00000433058.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4292,
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "ENST00000524845.5",
"protein_id": "ENSP00000431415.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 844,
"cds_start": -4,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2771,
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "ENST00000265636.9",
"protein_id": "ENSP00000265636.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": -4,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4794,
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "ENST00000529710.5",
"protein_id": "ENSP00000437329.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3228,
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "NM_001352354.2",
"protein_id": "NP_001339283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": -4,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5247,
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "NM_001352356.2",
"protein_id": "NP_001339285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": -4,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
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"cdna_length": 5120,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "NM_001164160.2",
"protein_id": "NP_001157632.1",
"transcript_support_level": null,
"aa_start": 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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPP6R3",
"gene_hgnc_id": 1173,
"hgvs_c": "c.228-3198C>G",
"hgvs_p": null,
"transcript": "NM_001352364.2",
"protein_id": "NP_001339293.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "PPP6R3",
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"hgvs_c": "c.228-3198C>G",
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"transcript": "NM_001352379.2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PPP6R3",
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"hgvs_c": "c.228-3198C>G",
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"transcript": "NM_001352368.2",
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},
{
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],
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"gene_symbol": "PPP6R3",
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"hgvs_c": "c.228-3198C>G",
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"transcript": "NM_001352372.2",
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},
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],
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"gene_symbol": "PPP6R3",
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"hgvs_c": "c.228-3198C>G",
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"transcript": "NM_001352375.2",
"protein_id": "NP_001339304.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "PPP6R3",
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"hgvs_c": "c.228-3198C>G",
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"transcript": "NM_001352377.2",
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],
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"gene_symbol": "PPP6R3",
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"hgvs_c": "c.228-3198C>G",
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"transcript": "NM_001164162.2",
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "PPP6R3",
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"hgvs_c": "c.228-3198C>G",
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"transcript": "NM_001352348.2",
"protein_id": "NP_001339277.1",
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],
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"gene_symbol": "PPP6R3",
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},
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"consequences": [
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],
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"intron_rank": 3,
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"gene_symbol": "PPP6R3",
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"hgvs_c": "c.228-3198C>G",
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"transcript": "NM_001352373.2",
"protein_id": "NP_001339302.1",
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "PPP6R3",
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"hgvs_c": "c.228-3198C>G",
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"transcript": "NM_001352362.2",
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{
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"verdict": "Benign",
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"clinvar_review_status": "",
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}
],
"message": null
}