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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: 17-710261-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=710261&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 710261,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000437048.7",
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "NM_001128159.3",
"protein_id": "NP_001121631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": -4,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13089,
"mane_select": "ENST00000437048.7",
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000437048.7",
"protein_id": "ENSP00000401435.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": -4,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13089,
"mane_select": "NM_001128159.3",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000571805.6",
"protein_id": "ENSP00000459312.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": -4,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3070,
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000291074.10",
"protein_id": "ENSP00000291074.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2695,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000401468.7",
"protein_id": "ENSP00000384294.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "n.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000389040.9",
"protein_id": "ENSP00000373692.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.*194T>C",
"hgvs_p": null,
"transcript": "ENST00000574029.6",
"protein_id": "ENSP00000459159.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2690,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "NM_001366253.2",
"protein_id": "NP_001353182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": -4,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3111,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000681317.1",
"protein_id": "ENSP00000505190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2671,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000679361.1",
"protein_id": "ENSP00000504978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2237,
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000680069.1",
"protein_id": "ENSP00000505145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": -4,
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"cds_length": 2019,
"cdna_start": null,
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"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,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "NM_018289.4",
"protein_id": "NP_060759.2",
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000681917.1",
"protein_id": "ENSP00000505944.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 655,
"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": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000681154.1",
"protein_id": "ENSP00000505866.1",
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},
{
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"strand": false,
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"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "VPS53",
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"hgvs_c": "c.168+272T>C",
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"transcript": "ENST00000681902.1",
"protein_id": "ENSP00000505328.1",
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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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000680128.1",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.-202+272T>C",
"hgvs_p": null,
"transcript": "ENST00000680704.1",
"protein_id": "ENSP00000506453.1",
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"mane_select": 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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"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.-525+272T>C",
"hgvs_p": null,
"transcript": "NM_001366254.2",
"protein_id": "NP_001353183.1",
"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,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000681133.1",
"protein_id": "ENSP00000506475.1",
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},
{
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"strand": false,
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],
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"intron_rank": 2,
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"gene_symbol": "VPS53",
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"hgvs_c": "c.168+272T>C",
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"transcript": "ENST00000576019.6",
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},
{
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],
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"gene_symbol": "VPS53",
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"transcript": "ENST00000680241.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000679961.1",
"protein_id": "ENSP00000505902.1",
"transcript_support_level": null,
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"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,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.168+272T>C",
"hgvs_p": null,
"transcript": "ENST00000575100.2",
"protein_id": "ENSP00000505967.1",
"transcript_support_level": 6,
"aa_start": null,
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"aa_length": 133,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}