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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: 2-111168355-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=111168355&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 111168355,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000393256.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4124C>T",
"hgvs_p": null,
"transcript": "NM_138621.5",
"protein_id": "NP_619527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": -4,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5098,
"mane_select": "ENST00000393256.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4124C>T",
"hgvs_p": null,
"transcript": "ENST00000393256.8",
"protein_id": "ENSP00000376943.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": -4,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5098,
"mane_select": "NM_138621.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4124C>T",
"hgvs_p": null,
"transcript": "ENST00000393252.4",
"protein_id": "ENSP00000376941.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4124C>T",
"hgvs_p": null,
"transcript": "ENST00000715206.1",
"protein_id": "ENSP00000520413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": -4,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4334C>T",
"hgvs_p": null,
"transcript": "NM_001204108.1",
"protein_id": "NP_001191037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": -4,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4336C>T",
"hgvs_p": null,
"transcript": "NM_138622.4",
"protein_id": "NP_619528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4319C>T",
"hgvs_p": null,
"transcript": "NM_001204109.2",
"protein_id": "NP_001191038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": -4,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4124C>T",
"hgvs_p": null,
"transcript": "NM_006538.5",
"protein_id": "NP_006529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4346C>T",
"hgvs_p": null,
"transcript": "NM_138624.4",
"protein_id": "NP_619530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4209C>T",
"hgvs_p": null,
"transcript": "NM_138626.4",
"protein_id": "NP_619532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
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"cdna_length": 4994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4336C>T",
"hgvs_p": null,
"transcript": "NM_138623.4",
"protein_id": "NP_619529.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 109,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.*4124C>T",
"hgvs_p": null,
"transcript": "NM_001204106.2",
"protein_id": "NP_001191035.1",
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4390C>T",
"hgvs_p": null,
"transcript": "NM_001204107.1",
"protein_id": "NP_001191036.1",
"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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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.*4334C>T",
"hgvs_p": null,
"transcript": "NM_001204110.2",
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.*4319C>T",
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"transcript": "NM_001204112.2",
"protein_id": "NP_001191041.1",
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},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4336C>T",
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"transcript": "NM_207003.3",
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},
{
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],
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.*4209C>T",
"hgvs_p": null,
"transcript": "NM_001204111.2",
"protein_id": "NP_001191040.1",
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},
{
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"strand": true,
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4339C>T",
"hgvs_p": null,
"transcript": "NM_138625.4",
"protein_id": "NP_619531.1",
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4209C>T",
"hgvs_p": null,
"transcript": "NM_138627.4",
"protein_id": "NP_619533.1",
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},
{
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],
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.*4124C>T",
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"transcript": "XM_005263553.4",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.*4209C>T",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.*4124C>T",
"hgvs_p": null,
"transcript": "XM_005263559.4",
"protein_id": "XP_005263616.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 108,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MIR4435-2HG",
"gene_hgnc_id": 35163,
"hgvs_c": "n.340-2755G>A",
"hgvs_p": null,
"transcript": "ENST00000642191.1",
"protein_id": null,
"transcript_support_level": null,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -10,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000393256.8",
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{
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"BS1",
"BS2"
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"verdict": "Benign",
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"gene_symbol": "MIR4435-2HG",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}