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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: 13-34966519-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=34966519&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 34966519,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000379939.7",
"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": 59,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "NM_001385012.1",
"protein_id": "NP_001371941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2967,
"cds_start": -4,
"cds_end": null,
"cds_length": 8904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11200,
"mane_select": "ENST00000379939.7",
"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": 59,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "ENST00000379939.7",
"protein_id": "ENSP00000369271.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2967,
"cds_start": -4,
"cds_end": null,
"cds_length": 8904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11200,
"mane_select": "NM_001385012.1",
"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": 58,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "NM_001379245.1",
"protein_id": "NP_001366174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2964,
"cds_start": -4,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11191,
"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": 58,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "NM_015678.5",
"protein_id": "NP_056493.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2946,
"cds_start": -4,
"cds_end": null,
"cds_length": 8841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11137,
"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": 58,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "ENST00000400445.8",
"protein_id": "ENSP00000383295.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2946,
"cds_start": -4,
"cds_end": null,
"cds_length": 8841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11138,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "ENST00000691351.1",
"protein_id": "ENSP00000509284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": -4,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4517,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "ENST00000686320.1",
"protein_id": "ENSP00000508724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1020,
"cds_start": -4,
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"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3997,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "ENST00000692464.1",
"protein_id": "ENSP00000510083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4013,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "n.231+22328A>G",
"hgvs_p": null,
"transcript": "ENST00000685717.1",
"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,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "n.294+23405A>G",
"hgvs_p": null,
"transcript": "ENST00000686972.1",
"protein_id": "ENSP00000509765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "n.294+23405A>G",
"hgvs_p": null,
"transcript": "ENST00000692628.1",
"protein_id": "ENSP00000509105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "XM_006719803.4",
"protein_id": "XP_006719866.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": 1,
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"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "XM_017020544.2",
"protein_id": "XP_016876033.1",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
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"transcript": "XM_047430269.1",
"protein_id": "XP_047286225.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "XM_006719806.4",
"protein_id": "XP_006719869.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 58,
"intron_rank": 1,
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"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "XM_005266346.5",
"protein_id": "XP_005266403.1",
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],
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"intron_rank": 1,
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"gene_symbol": "NBEA",
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"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "XM_017020545.2",
"protein_id": "XP_016876034.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
"hgvs_p": null,
"transcript": "XM_006719805.4",
"protein_id": "XP_006719868.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 60,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.-28+3664A>G",
"hgvs_p": null,
"transcript": "XM_047430271.1",
"protein_id": "XP_047286227.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.294+23405A>G",
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"transcript": "XM_011535047.3",
"protein_id": "XP_011533349.1",
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}
],
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"dbsnp": "rs17051776",
"frequency_reference_population": 0.027286602,
"hom_count_reference_population": 82,
"allele_count_reference_population": 4148,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0272866,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 4148,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 82,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.598,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379939.7",
"gene_symbol": "NBEA",
"hgnc_id": 7648,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.294+23405A>G",
"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
}