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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: 11-27674771-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=27674771&ref=A&alt=C&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": "BDNF",
"hgnc_id": 1033,
"hgvs_c": "c.-58-429T>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001143810.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "BDNF-AS",
"hgnc_id": 20608,
"hgvs_c": "n.655-526A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000499008.8",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 25031,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 247,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3985,
"cdna_start": null,
"cds_end": null,
"cds_length": 744,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001709.5",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "c.-21-16186T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356660.9",
"protein_coding": true,
"protein_id": "NP_001700.2",
"strand": false,
"transcript": "NM_001709.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 247,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3985,
"cdna_start": null,
"cds_end": null,
"cds_length": 744,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356660.9",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "c.-21-16186T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001709.5",
"protein_coding": true,
"protein_id": "ENSP00000349084.4",
"strand": false,
"transcript": "ENST00000356660.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 329,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4059,
"cdna_start": null,
"cds_end": null,
"cds_length": 990,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438929.5",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "c.-58-429T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414303.1",
"strand": false,
"transcript": "ENST00000438929.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3979,
"cdna_start": null,
"cds_end": null,
"cds_length": 789,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395986.6",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "c.25-16186T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379309.2",
"strand": false,
"transcript": "ENST00000395986.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 255,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": null,
"cds_end": null,
"cds_length": 768,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000314915.6",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "c.4-16186T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000320002.6",
"strand": false,
"transcript": "ENST00000314915.6",
"transcript_support_level": 1
},
{
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"aa_end": null,
"aa_length": 247,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3988,
"cdna_start": null,
"cds_end": null,
"cds_length": 744,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395978.7",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "c.-21-16186T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379302.3",
"strand": false,
"transcript": "ENST00000395978.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 247,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4071,
"cdna_start": null,
"cds_end": null,
"cds_length": 744,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395981.7",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "c.-21-16186T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379305.3",
"strand": false,
"transcript": "ENST00000395981.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 247,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3776,
"cdna_start": null,
"cds_end": null,
"cds_length": 744,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395983.7",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "c.-21-16186T>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379307.3",
"strand": false,
"transcript": "ENST00000395983.7",
"transcript_support_level": 1
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4125,
"cdna_start": null,
"cds_end": null,
"cds_length": 744,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000418212.5",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "c.-128-15845T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000400502.1",
"strand": false,
"transcript": "ENST00000418212.5",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 2,
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"feature": "ENST00000525950.5",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
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"protein_coding": true,
"protein_id": "ENSP00000432035.1",
"strand": false,
"transcript": "ENST00000525950.5",
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},
{
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"consequences": [
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],
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"feature": "ENST00000530861.5",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
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"protein_coding": true,
"protein_id": "ENSP00000435564.1",
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},
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],
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"feature": "ENST00000532997.5",
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"gene_symbol": "BDNF",
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},
{
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],
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"feature": "ENST00000533131.5",
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"protein_coding": true,
"protein_id": "ENSP00000432727.1",
"strand": false,
"transcript": "ENST00000533131.5",
"transcript_support_level": 1
},
{
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],
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"feature": "ENST00000533246.5",
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"protein_coding": true,
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000499008.8",
"gene_hgnc_id": 20608,
"gene_symbol": "BDNF-AS",
"hgvs_c": "n.655-526A>C",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000499008.8",
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},
{
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000499568.3",
"gene_hgnc_id": 20608,
"gene_symbol": "BDNF-AS",
"hgvs_c": "n.586-806A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000499568.3",
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},
{
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],
"exon_count": 7,
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"feature": "ENST00000500662.7",
"gene_hgnc_id": 20608,
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},
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"feature": "ENST00000501176.7",
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},
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],
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"feature": "ENST00000502161.7",
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},
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"biotype": "nonsense_mediated_decay",
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"consequences": [
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],
"exon_count": 4,
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"feature": "ENST00000530786.5",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "n.-58-429T>G",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000433003.1",
"strand": false,
"transcript": "ENST00000530786.5",
"transcript_support_level": 1
},
{
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"biotype": "pseudogene",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 2,
"exon_rank": null,
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"feature": "ENST00000584049.5",
"gene_hgnc_id": 1033,
"gene_symbol": "BDNF",
"hgvs_c": "n.338-16186T>G",
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"mane_plus": null,
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"protein_coding": false,
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"transcript": "ENST00000584049.5",
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},
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