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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: 6-26440424-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26440424&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000291336",
"hgnc_id": null,
"hgvs_c": "n.1000-112763C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000707189.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000291338",
"hgnc_id": null,
"hgvs_c": "n.1001-92281C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000707191.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "BTN3A3",
"hgnc_id": 1140,
"hgvs_c": "c.-291C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_006994.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 18654,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "TEC",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000707189.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291336",
"hgvs_c": "n.1000-112763C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000707189.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "TEC",
"canonical": false,
"cdna_end": null,
"cdna_length": 1753,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000707191.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291338",
"hgvs_c": "n.1001-92281C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000707191.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006994.5",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-291C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000244519.7",
"protein_coding": true,
"protein_id": "NP_008925.1",
"strand": true,
"transcript": "NM_006994.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000244519.7",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-291C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006994.5",
"protein_coding": true,
"protein_id": "ENSP00000244519.2",
"strand": true,
"transcript": "ENST00000244519.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 589,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949570.1",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-291C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619629.1",
"strand": true,
"transcript": "ENST00000949570.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878509.1",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-418C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548568.1",
"strand": true,
"transcript": "ENST00000878509.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878510.1",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-336C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548569.1",
"strand": true,
"transcript": "ENST00000878510.1",
"transcript_support_level": null
},
{
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"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878511.1",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-286C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548570.1",
"strand": true,
"transcript": "ENST00000878511.1",
"transcript_support_level": null
},
{
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"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878515.1",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-230C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548574.1",
"strand": true,
"transcript": "ENST00000878515.1",
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},
{
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"biotype": "protein_coding",
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"cdna_length": 3014,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949571.1",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-377C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000619630.1",
"strand": true,
"transcript": "ENST00000949571.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000949572.1",
"gene_hgnc_id": 1140,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000949572.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000878508.1",
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},
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000878514.1",
"gene_hgnc_id": 1140,
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"hgvs_c": "c.-291C>T",
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"protein_coding": true,
"protein_id": "ENSP00000548573.1",
"strand": true,
"transcript": "ENST00000878514.1",
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},
{
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],
"exon_count": 10,
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"feature": "NM_197974.3",
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"protein_id": "NP_932078.2",
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"transcript": "NM_197974.3",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000361232.7",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-346C>T",
"hgvs_p": null,
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"protein_coding": true,
"protein_id": "ENSP00000355238.3",
"strand": true,
"transcript": "ENST00000361232.7",
"transcript_support_level": 2
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000949569.1",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-291C>T",
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"protein_coding": true,
"protein_id": "ENSP00000619628.1",
"strand": true,
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},
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000878516.1",
"gene_hgnc_id": 1140,
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},
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"consequences": [
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],
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"feature": "ENST00000878512.1",
"gene_hgnc_id": 1140,
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"hgvs_c": "c.-291C>T",
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},
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"consequences": [
"upstream_gene_variant"
],
"exon_count": 9,
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"feature": "ENST00000878513.1",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-291C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548572.1",
"strand": true,
"transcript": "ENST00000878513.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878507.1",
"gene_hgnc_id": 1140,
"gene_symbol": "BTN3A3",
"hgvs_c": "c.-291C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548566.1",
"strand": true,
"transcript": "ENST00000878507.1",
"transcript_support_level": null
},
{
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