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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: 22-43642638-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=43642638&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 43642638,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000262726.12",
"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": 32,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.1984-7422C>T",
"hgvs_p": null,
"transcript": "NM_022785.4",
"protein_id": "NP_073622.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1501,
"cds_start": -4,
"cds_end": null,
"cds_length": 4506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": "ENST00000262726.12",
"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": 32,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.1984-7422C>T",
"hgvs_p": null,
"transcript": "ENST00000262726.12",
"protein_id": "ENSP00000262726.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1501,
"cds_start": -4,
"cds_end": null,
"cds_length": 4506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": "NM_022785.4",
"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": 30,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.1528-7422C>T",
"hgvs_p": null,
"transcript": "ENST00000396231.6",
"protein_id": "ENSP00000379533.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4424,
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "n.530-7422C>T",
"hgvs_p": null,
"transcript": "ENST00000468552.1",
"protein_id": null,
"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": 5120,
"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": 30,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.1528-7422C>T",
"hgvs_p": null,
"transcript": "NM_198856.3",
"protein_id": "NP_942153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1349,
"cds_start": -4,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4505,
"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": 33,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.2062-7422C>T",
"hgvs_p": null,
"transcript": "XM_011530316.2",
"protein_id": "XP_011528618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1613,
"cds_start": -4,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5380,
"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": 33,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.2062-7422C>T",
"hgvs_p": null,
"transcript": "XM_017028910.3",
"protein_id": "XP_016884399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1613,
"cds_start": -4,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5228,
"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": 32,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.1984-7422C>T",
"hgvs_p": null,
"transcript": "XM_005261704.3",
"protein_id": "XP_005261761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1587,
"cds_start": -4,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5121,
"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": 31,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.1984-7422C>T",
"hgvs_p": null,
"transcript": "XM_011530317.4",
"protein_id": "XP_011528619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1587,
"cds_start": -4,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4984,
"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": 31,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.1906-7422C>T",
"hgvs_p": null,
"transcript": "XM_011530318.4",
"protein_id": "XP_011528620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1561,
"cds_start": -4,
"cds_end": null,
"cds_length": 4686,
"cdna_start": null,
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"cdna_length": 5072,
"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": 33,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.2062-7422C>T",
"hgvs_p": null,
"transcript": "XM_017028911.3",
"protein_id": "XP_016884400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1527,
"cds_start": -4,
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"cdna_start": 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": 30,
"intron_rank": 15,
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"gene_symbol": "EFCAB6",
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"hgvs_c": "c.1666-7422C>T",
"hgvs_p": null,
"transcript": "XM_011530319.4",
"protein_id": "XP_011528621.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 18,
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"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.2062-7422C>T",
"hgvs_p": null,
"transcript": "XM_011530320.4",
"protein_id": "XP_011528622.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 30,
"intron_rank": 15,
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"gene_symbol": "EFCAB6",
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"hgvs_c": "c.1528-7422C>T",
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},
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"strand": false,
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],
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"intron_rank": 16,
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"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.1528-7422C>T",
"hgvs_p": null,
"transcript": "XM_047441461.1",
"protein_id": "XP_047297417.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.1522-7422C>T",
"hgvs_p": null,
"transcript": "XM_011530323.3",
"protein_id": "XP_011528625.1",
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},
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],
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"gene_symbol": "EFCAB6",
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"hgvs_c": "c.1510-7422C>T",
"hgvs_p": null,
"transcript": "XM_047441462.1",
"protein_id": "XP_047297418.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.1240-7422C>T",
"hgvs_p": null,
"transcript": "XM_011530325.3",
"protein_id": "XP_011528627.1",
"transcript_support_level": null,
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 18,
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"gene_symbol": "EFCAB6",
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"hgvs_c": "c.2062-7422C>T",
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"transcript": "XM_011530326.4",
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],
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"gene_symbol": "EFCAB6",
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},
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],
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"gene_symbol": "EFCAB6",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.2062-7422C>T",
"hgvs_p": null,
"transcript": "XM_047441463.1",
"protein_id": "XP_047297419.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 902,
"cds_start": -4,
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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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.-8-10400C>T",
"hgvs_p": null,
"transcript": "XM_047441464.1",
"protein_id": "XP_047297420.1",
"transcript_support_level": null,
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.95,
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
"transcript": "ENST00000262726.12",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}