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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: 2-111137967-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=111137967&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 111137967,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000393256.8",
"consequences": [
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.395-12077C>A",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.395-12077C>A",
"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": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.*12+7720C>A",
"hgvs_p": null,
"transcript": "ENST00000361493.10",
"protein_id": "ENSP00000354879.6",
"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": 443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.214+13828C>A",
"hgvs_p": null,
"transcript": "ENST00000415458.5",
"protein_id": "ENSP00000393781.1",
"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": 438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.394+13828C>A",
"hgvs_p": null,
"transcript": "ENST00000436733.5",
"protein_id": "ENSP00000403727.1",
"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": 618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.395-12077C>A",
"hgvs_p": null,
"transcript": "ENST00000437029.5",
"protein_id": "ENSP00000412892.1",
"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": 729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.125-12077C>A",
"hgvs_p": null,
"transcript": "ENST00000439718.1",
"protein_id": "ENSP00000411137.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.125-12077C>A",
"hgvs_p": null,
"transcript": "ENST00000452231.5",
"protein_id": "ENSP00000391292.1",
"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": 459,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.677-12077C>A",
"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,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.395-12077C>A",
"hgvs_p": null,
"transcript": "ENST00000715206.1",
"protein_id": "ENSP00000520413.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 198,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5068,
"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": 5,
"intron_rank": 2,
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"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.395-12077C>A",
"hgvs_p": null,
"transcript": "NM_001204108.1",
"protein_id": "NP_001191037.1",
"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": null,
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.395-12077C>A",
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"transcript": "NM_138622.4",
"protein_id": "NP_619528.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.394+13828C>A",
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"transcript": "NM_001204109.2",
"protein_id": "NP_001191038.1",
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},
{
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"strand": true,
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],
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.215-12077C>A",
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"transcript": "NM_006538.5",
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},
{
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],
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"hgvs_c": "c.215-12077C>A",
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"transcript": "ENST00000308659.12",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.395-6521C>A",
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"transcript": "NM_138624.4",
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},
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],
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.394+13828C>A",
"hgvs_p": null,
"transcript": "NM_138626.4",
"protein_id": "NP_619532.1",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.215-12077C>A",
"hgvs_p": null,
"transcript": "NM_138623.4",
"protein_id": "NP_619529.1",
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},
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.125-12077C>A",
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"transcript": "NM_001204106.2",
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],
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"gene_symbol": "BCL2L11",
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},
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],
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"gene_symbol": "BCL2L11",
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"hgvs_c": "c.215-4346C>A",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.125-12077C>A",
"hgvs_p": null,
"transcript": "NM_001204107.1",
"protein_id": "NP_001191036.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.125-12077C>A",
"hgvs_p": null,
"transcript": "NM_001204110.2",
"protein_id": "NP_001191039.1",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.675,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393256.8",
"gene_symbol": "BCL2L11",
"hgnc_id": 994,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.395-12077C>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000642191.1",
"gene_symbol": "MIR4435-2HG",
"hgnc_id": 35163,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1037-5712G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}