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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: 16-53158419-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53158419&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53158419,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000447540.6",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.1452+878T>C",
"hgvs_p": null,
"transcript": "NM_001308319.2",
"protein_id": "NP_001295248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2897,
"cds_start": -4,
"cds_end": null,
"cds_length": 8694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": "ENST00000447540.6",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.1452+878T>C",
"hgvs_p": null,
"transcript": "ENST00000447540.6",
"protein_id": "ENSP00000396345.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2897,
"cds_start": -4,
"cds_end": null,
"cds_length": 8694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": "NM_001308319.2",
"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": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.1452+878T>C",
"hgvs_p": null,
"transcript": "ENST00000398510.7",
"protein_id": "ENSP00000381522.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2897,
"cds_start": -4,
"cds_end": null,
"cds_length": 8694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11337,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.1452+878T>C",
"hgvs_p": null,
"transcript": "ENST00000564845.5",
"protein_id": "ENSP00000455307.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2881,
"cds_start": -4,
"cds_end": null,
"cds_length": 8646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11504,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.1452+878T>C",
"hgvs_p": null,
"transcript": "ENST00000566029.5",
"protein_id": "ENSP00000457466.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2881,
"cds_start": -4,
"cds_end": null,
"cds_length": 8646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13110,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.1452+878T>C",
"hgvs_p": null,
"transcript": "ENST00000565832.5",
"protein_id": "ENSP00000456793.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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": 2,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.1452+878T>C",
"hgvs_p": null,
"transcript": "NM_001382353.1",
"protein_id": "NP_001369282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2897,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 11507,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.1452+878T>C",
"hgvs_p": null,
"transcript": "NM_001352127.3",
"protein_id": "NP_001339056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2881,
"cds_start": -4,
"cds_end": null,
"cds_length": 8646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11459,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.1452+878T>C",
"hgvs_p": null,
"transcript": "NM_025134.7",
"protein_id": "NP_079410.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2881,
"cds_start": -4,
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"cds_length": 8646,
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-3445+878T>C",
"hgvs_p": null,
"transcript": "ENST00000615216.4",
"protein_id": "ENSP00000478361.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "n.378+878T>C",
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"transcript": "ENST00000564255.5",
"protein_id": null,
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},
{
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],
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},
{
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],
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"gene_symbol": "CHD9",
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],
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"gene_symbol": "CHD9",
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},
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],
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},
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],
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"gene_symbol": "CHD9",
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"hgvs_c": "c.1452+878T>C",
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},
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],
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"gene_symbol": "CHD9",
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"transcript": "XM_024450459.2",
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],
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],
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"transcript": "XM_047434690.1",
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},
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],
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"gene_symbol": "CHD9",
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"hgvs_c": "c.1452+878T>C",
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