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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: 13-43279414-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=43279414&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 43279414,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000690772.1",
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1447-9837T>G",
"hgvs_p": null,
"transcript": "NM_001347969.2",
"protein_id": "NP_001334898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "ENST00000690772.1",
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1447-9837T>G",
"hgvs_p": null,
"transcript": "ENST00000690772.1",
"protein_id": "ENSP00000509229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "NM_001347969.2",
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1447-9837T>G",
"hgvs_p": null,
"transcript": "ENST00000261488.10",
"protein_id": "ENSP00000261488.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2982,
"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": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1552-9837T>G",
"hgvs_p": null,
"transcript": "NM_001347963.2",
"protein_id": "NP_001334892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3253,
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1447-9837T>G",
"hgvs_p": null,
"transcript": "NM_001127615.3",
"protein_id": "NP_001121087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3092,
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1447-9837T>G",
"hgvs_p": null,
"transcript": "NM_001242863.3",
"protein_id": "NP_001229792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1447-9837T>G",
"hgvs_p": null,
"transcript": "NM_001347964.2",
"protein_id": "NP_001334893.1",
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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": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1447-9837T>G",
"hgvs_p": null,
"transcript": "NM_001347965.2",
"protein_id": "NP_001334894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
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"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1447-9837T>G",
"hgvs_p": null,
"transcript": "NM_001347966.2",
"protein_id": "NP_001334895.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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],
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},
{
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],
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"gene_symbol": "ENOX1",
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],
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],
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}