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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: 6-149345484-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=149345484&ref=T&alt=A&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": "TAB2",
"hgnc_id": 17075,
"hgvs_c": "c.-90+2651T>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_015093.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 35852,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 693,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001292034.3",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-89-24425T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000637181.2",
"protein_coding": true,
"protein_id": "NP_001278963.1",
"strand": true,
"transcript": "NM_001292034.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 693,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637181.2",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-89-24425T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001292034.3",
"protein_coding": true,
"protein_id": "ENSP00000490618.1",
"strand": true,
"transcript": "ENST00000637181.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4199,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470466.5",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "n.-90+2651T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432709.1",
"strand": true,
"transcript": "ENST00000470466.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 693,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4512,
"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369506.1",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-90+2651T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356435.1",
"strand": true,
"transcript": "NM_001369506.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 693,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015093.6",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-90+2651T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055908.1",
"strand": true,
"transcript": "NM_015093.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 693,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367456.5",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-90+2651T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356426.1",
"strand": true,
"transcript": "ENST00000367456.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 693,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894599.1",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-90+2651T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564658.1",
"strand": true,
"transcript": "ENST00000894599.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 693,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894600.1",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-208-994T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564659.1",
"strand": true,
"transcript": "ENST00000894600.1",
"transcript_support_level": null
},
{
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"aa_length": 693,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4078,
"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894601.1",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-89-24425T>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564660.1",
"strand": true,
"transcript": "ENST00000894601.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000894602.1",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-90+2651T>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564661.1",
"strand": true,
"transcript": "ENST00000894602.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000919129.1",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-204-22570T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000589188.1",
"strand": true,
"transcript": "ENST00000919129.1",
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},
{
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"biotype": "protein_coding",
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"feature": "ENST00000919131.1",
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},
{
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],
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"feature": "ENST00000919130.1",
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000919130.1",
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},
{
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"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "NM_001292035.3",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.7-32534T>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001278964.1",
"strand": true,
"transcript": "NM_001292035.3",
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},
{
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],
"exon_count": 6,
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"feature": "ENST00000703213.1",
"gene_hgnc_id": 17075,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000515239.1",
"strand": true,
"transcript": "ENST00000703213.1",
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},
{
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000636456.1",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-97+27861T>A",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000490379.1",
"strand": true,
"transcript": "ENST00000636456.1",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 2,
"exon_rank": null,
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"feature": "ENST00000606202.1",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-120-32534T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000476139.1",
"strand": true,
"transcript": "ENST00000606202.1",
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},
{
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],
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"feature": "ENST00000606797.5",
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"protein_coding": true,
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},
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],
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"feature": "XM_011535633.3",
"gene_hgnc_id": 17075,
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"protein_coding": true,
"protein_id": "XP_011533935.1",
"strand": true,
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},
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"consequences": [
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],
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"feature": "XM_017010592.3",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-176-1687T>A",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016866081.1",
"strand": true,
"transcript": "XM_017010592.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418486.1",
"gene_hgnc_id": 17075,
"gene_symbol": "TAB2",
"hgvs_c": "c.-90+2651T>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047274442.1",
"strand": true,
"transcript": "XM_047418486.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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