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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: 12-125070916-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=125070916&ref=G&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": "AACS",
"hgnc_id": 21298,
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_023928.5",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105370052",
"hgnc_id": null,
"hgvs_c": "n.195-5806C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "XR_001749364.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 21410,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.04,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0399999618530273,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 672,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3256,
"cdna_start": null,
"cds_end": null,
"cds_length": 2019,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_023928.5",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316519.11",
"protein_coding": true,
"protein_id": "NP_076417.2",
"strand": true,
"transcript": "NM_023928.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 672,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3256,
"cdna_start": null,
"cds_end": null,
"cds_length": 2019,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316519.11",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_023928.5",
"protein_coding": true,
"protein_id": "ENSP00000324842.6",
"strand": true,
"transcript": "ENST00000316519.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 671,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3318,
"cdna_start": null,
"cds_end": null,
"cds_length": 2016,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852618.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522677.1",
"strand": true,
"transcript": "ENST00000852618.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 652,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6095,
"cdna_start": null,
"cds_end": null,
"cds_length": 1959,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001414675.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401604.1",
"strand": true,
"transcript": "NM_001414675.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 652,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": null,
"cds_end": null,
"cds_length": 1959,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852617.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522676.1",
"strand": true,
"transcript": "ENST00000852617.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319840.2",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306769.1",
"strand": true,
"transcript": "NM_001319840.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852620.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522679.1",
"strand": true,
"transcript": "ENST00000852620.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319839.2",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306768.1",
"strand": true,
"transcript": "NM_001319839.2",
"transcript_support_level": null
},
{
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"aa_length": 558,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": null,
"cds_end": null,
"cds_length": 1677,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001414676.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001401605.1",
"strand": true,
"transcript": "NM_001414676.1",
"transcript_support_level": null
},
{
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"aa_length": 557,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": null,
"cds_end": null,
"cds_length": 1674,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000938197.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000608256.1",
"strand": true,
"transcript": "ENST00000938197.1",
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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": 15,
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"feature": "ENST00000971010.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641069.1",
"strand": true,
"transcript": "ENST00000971010.1",
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},
{
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],
"exon_count": 14,
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"feature": "ENST00000971007.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
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"protein_coding": true,
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},
{
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],
"exon_count": 14,
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"feature": "NM_001414677.1",
"gene_hgnc_id": 21298,
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"hgvs_c": "c.134-2960G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001401606.1",
"strand": true,
"transcript": "NM_001414677.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000971008.1",
"gene_hgnc_id": 21298,
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"hgvs_c": "c.134-2960G>A",
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"protein_coding": true,
"protein_id": "ENSP00000641067.1",
"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000971009.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641068.1",
"strand": true,
"transcript": "ENST00000971009.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000852621.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000522680.1",
"strand": true,
"transcript": "ENST00000852621.1",
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},
{
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"canonical": false,
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],
"exon_count": 12,
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"feature": "ENST00000852619.1",
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"hgvs_c": "c.134-2960G>A",
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"strand": true,
"transcript": "ENST00000852619.1",
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},
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],
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"feature": "ENST00000938196.1",
"gene_hgnc_id": 21298,
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"hgvs_c": "c.134-2960G>A",
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"protein_id": "ENSP00000608255.1",
"strand": true,
"transcript": "ENST00000938196.1",
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},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000852622.1",
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"gene_symbol": "AACS",
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"protein_coding": true,
"protein_id": "ENSP00000522681.1",
"strand": true,
"transcript": "ENST00000852622.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1125,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001414678.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401607.1",
"strand": true,
"transcript": "NM_001414678.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971006.1",
"gene_hgnc_id": 21298,
"gene_symbol": "AACS",
"hgvs_c": "c.134-2960G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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