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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: 8-17943260-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17943260&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17943260,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000325083.13",
"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": 39,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.783+3399T>G",
"hgvs_p": null,
"transcript": "NM_006197.4",
"protein_id": "NP_006188.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2024,
"cds_start": -4,
"cds_end": null,
"cds_length": 6075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8652,
"mane_select": "ENST00000325083.13",
"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": 39,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.783+3399T>G",
"hgvs_p": null,
"transcript": "ENST00000325083.13",
"protein_id": "ENSP00000327077.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2024,
"cds_start": -4,
"cds_end": null,
"cds_length": 6075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8652,
"mane_select": "NM_006197.4",
"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": 39,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.783+3399T>G",
"hgvs_p": null,
"transcript": "ENST00000519253.5",
"protein_id": "ENSP00000431099.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2016,
"cds_start": -4,
"cds_end": null,
"cds_length": 6051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6443,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.783+3399T>G",
"hgvs_p": null,
"transcript": "ENST00000524226.5",
"protein_id": "ENSP00000430521.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": -4,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5955,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.900+3102T>G",
"hgvs_p": null,
"transcript": "ENST00000517730.5",
"protein_id": "ENSP00000428131.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2536,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.900+3102T>G",
"hgvs_p": null,
"transcript": "ENST00000518537.5",
"protein_id": "ENSP00000428123.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
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"cdna_length": 2171,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.783+3399T>G",
"hgvs_p": null,
"transcript": "ENST00000523055.5",
"protein_id": "ENSP00000429941.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
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"cds_length": 1225,
"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": 40,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.900+3102T>G",
"hgvs_p": null,
"transcript": "NM_001352632.2",
"protein_id": "NP_001339561.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2067,
"cds_start": -4,
"cds_end": null,
"cds_length": 6204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8781,
"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": 42,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.900+3102T>G",
"hgvs_p": null,
"transcript": "NM_001352650.2",
"protein_id": "NP_001339579.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": -4,
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"cds_length": 6192,
"cdna_start": null,
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"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,
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"exon_count": 39,
"intron_rank": 6,
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"gene_symbol": "PCM1",
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"hgvs_c": "c.900+3102T>G",
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"transcript": "NM_001352651.2",
"protein_id": "NP_001339580.2",
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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": 9,
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"gene_symbol": "PCM1",
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"hgvs_c": "c.900+3102T>G",
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"transcript": "NM_001352633.2",
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},
{
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],
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"gene_symbol": "PCM1",
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},
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],
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"hgvs_c": "c.783+3399T>G",
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},
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],
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"gene_symbol": "PCM1",
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],
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},
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],
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],
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"gene_symbol": "PCM1",
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"transcript": "NM_001352636.2",
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],
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"gene_symbol": "PCM1",
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},
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],
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"intron_rank": 6,
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