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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: 2-152666597-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=152666597&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 152666597,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000545856.8",
"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": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1891-2345T>G",
"hgvs_p": null,
"transcript": "NM_001365597.4",
"protein_id": "NP_001352526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": -4,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": "ENST00000545856.8",
"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": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1891-2345T>G",
"hgvs_p": null,
"transcript": "ENST00000545856.8",
"protein_id": "ENSP00000444656.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": -4,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": "NM_001365597.4",
"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": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1957-2345T>G",
"hgvs_p": null,
"transcript": "NM_001395488.1",
"protein_id": "NP_001382417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 994,
"cds_start": -4,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7947,
"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": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1957-2345T>G",
"hgvs_p": null,
"transcript": "ENST00000410080.8",
"protein_id": "ENSP00000386458.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 994,
"cds_start": -4,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8048,
"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": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1891-2345T>G",
"hgvs_p": null,
"transcript": "NM_001365596.4",
"protein_id": "NP_001352525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 976,
"cds_start": -4,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7527,
"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": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1837-2345T>G",
"hgvs_p": null,
"transcript": "NM_001365598.4",
"protein_id": "NP_001352527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": -4,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7473,
"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": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1846-2345T>G",
"hgvs_p": null,
"transcript": "ENST00000696381.1",
"protein_id": "ENSP00000512591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": -4,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2915,
"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": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1837-2345T>G",
"hgvs_p": null,
"transcript": "NM_001365599.4",
"protein_id": "NP_001352528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7461,
"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": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1765-2345T>G",
"hgvs_p": null,
"transcript": "NM_001365600.4",
"protein_id": "NP_001352529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": -4,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7401,
"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": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1765-2345T>G",
"hgvs_p": null,
"transcript": "NM_001395472.1",
"protein_id": "NP_001382401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1765-2345T>G",
"hgvs_p": null,
"transcript": "ENST00000698772.1",
"protein_id": "ENSP00000513920.1",
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"aa_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 16,
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"gene_symbol": "PRPF40A",
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"transcript": "ENST00000698773.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
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"gene_symbol": "PRPF40A",
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"hgvs_c": "c.1765-2345T>G",
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"transcript": "NM_001395473.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PRPF40A",
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"hgvs_c": "c.1765-2345T>G",
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"transcript": "NM_017892.5",
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},
{
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],
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"gene_symbol": "PRPF40A",
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"hgvs_c": "c.1720-2345T>G",
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"transcript": "NM_001395475.1",
"protein_id": "NP_001382404.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "PRPF40A",
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"hgvs_c": "c.1711-2345T>G",
"hgvs_p": null,
"transcript": "NM_001365601.4",
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],
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"gene_symbol": "PRPF40A",
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"transcript": "NM_001395476.1",
"protein_id": "NP_001382405.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1720-2345T>G",
"hgvs_p": null,
"transcript": "NM_001395477.1",
"protein_id": "NP_001382406.1",
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},
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],
"exon_rank": null,
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"exon_count": 27,
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"gene_symbol": "PRPF40A",
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"hgvs_c": "c.1720-2345T>G",
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],
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"hgvs_c": "c.1720-2345T>G",
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},
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],
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"gene_symbol": "PRPF40A",
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},
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"consequences": [
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],
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"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1711-2345T>G",
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"transcript": "NM_001395479.1",
"protein_id": "NP_001382408.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 17,
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"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.1597-2345T>G",
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}