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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: 2-112739474-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=112739474&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 112739474,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000302450.11",
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "c.2013-426A>C",
"hgvs_p": null,
"transcript": "NM_152515.5",
"protein_id": "NP_689728.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": "ENST00000302450.11",
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "c.2013-426A>C",
"hgvs_p": null,
"transcript": "ENST00000302450.11",
"protein_id": "ENSP00000305204.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": "NM_152515.5",
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1249-2938T>G",
"hgvs_p": null,
"transcript": "ENST00000327581.4",
"protein_id": "ENSP00000330247.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": -4,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1767,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "c.1518-426A>C",
"hgvs_p": null,
"transcript": "NM_001304361.2",
"protein_id": "NP_001291290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4664,
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1345-1046T>G",
"hgvs_p": null,
"transcript": "ENST00000690591.1",
"protein_id": "ENSP00000508583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1695,
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1216-1046T>G",
"hgvs_p": null,
"transcript": "ENST00000689550.1",
"protein_id": "ENSP00000509747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1631,
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1249-2938T>G",
"hgvs_p": null,
"transcript": "NM_001350494.2",
"protein_id": "NP_001337423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": -4,
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"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1767,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "n.*688-426A>C",
"hgvs_p": null,
"transcript": "ENST00000435431.5",
"protein_id": "ENSP00000414834.1",
"transcript_support_level": 2,
"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": 2455,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "n.1266-426A>C",
"hgvs_p": null,
"transcript": "NR_130712.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3965,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "c.1518-426A>C",
"hgvs_p": null,
"transcript": "XM_011510666.3",
"protein_id": "XP_011508968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1552-1046T>G",
"hgvs_p": null,
"transcript": "XM_024452799.2",
"protein_id": "XP_024308567.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
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"gene_symbol": "NT5DC4",
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"transcript": "XM_011512262.3",
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},
{
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"strand": true,
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],
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"gene_symbol": "NT5DC4",
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"hgvs_c": "c.1534-1046T>G",
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"transcript": "XM_024452800.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 15,
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"gene_symbol": "NT5DC4",
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"hgvs_c": "c.1519-1046T>G",
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},
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],
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},
{
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"consequences": [
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],
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"gene_symbol": "NT5DC4",
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],
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},
{
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],
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"gene_symbol": "NT5DC4",
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"hgvs_c": "c.1381-1046T>G",
"hgvs_p": null,
"transcript": "XM_024452807.2",
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},
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],
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"gene_symbol": "NT5DC4",
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"hgvs_c": "c.1345-1046T>G",
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 16,
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"gene_symbol": "NT5DC4",
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"hgvs_c": "c.1216-1046T>G",
"hgvs_p": null,
"transcript": "XM_017005478.2",
"protein_id": "XP_016860967.1",
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
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"hgvs_c": "c.916-1046T>G",
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"transcript": "XM_011512265.3",
"protein_id": "XP_011510567.1",
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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_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"BA1"
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"verdict": "Benign",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}