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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: 12-8946937-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8946937&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 8946937,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000000412.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-1-532A>G",
"hgvs_p": null,
"transcript": "NM_002355.4",
"protein_id": "NP_002346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": "ENST00000000412.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-1-532A>G",
"hgvs_p": null,
"transcript": "ENST00000000412.8",
"protein_id": "ENSP00000000412.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": "NM_002355.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-110-113A>G",
"hgvs_p": null,
"transcript": "NM_001414320.1",
"protein_id": "NP_001401249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-1-532A>G",
"hgvs_p": null,
"transcript": "NM_001414331.1",
"protein_id": "NP_001401260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-1-532A>G",
"hgvs_p": null,
"transcript": "NM_001414332.1",
"protein_id": "NP_001401261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-1-532A>G",
"hgvs_p": null,
"transcript": "NM_001414333.1",
"protein_id": "NP_001401262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-1-532A>G",
"hgvs_p": null,
"transcript": "NM_001207024.2",
"protein_id": "NP_001193953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": -4,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-1-532A>G",
"hgvs_p": null,
"transcript": "ENST00000536844.5",
"protein_id": "ENSP00000440488.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": -4,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-337-550A>G",
"hgvs_p": null,
"transcript": "NM_001414322.1",
"protein_id": "NP_001401251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": -4,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-446-113A>G",
"hgvs_p": null,
"transcript": "NM_001414323.1",
"protein_id": "NP_001401252.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 159,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-188-532A>G",
"hgvs_p": null,
"transcript": "NM_001414324.1",
"protein_id": "NP_001401253.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "M6PR",
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"hgvs_c": "c.-337-550A>G",
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"transcript": "NM_001414325.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "M6PR",
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"hgvs_c": "c.-485-532A>G",
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"transcript": "NM_001414327.1",
"protein_id": "NP_001401256.1",
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},
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],
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"gene_symbol": "M6PR",
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"hgvs_c": "c.-467-550A>G",
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"transcript": "NM_001414328.1",
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},
{
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],
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"gene_symbol": "M6PR",
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"transcript": "ENST00000543845.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "M6PR",
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"hgvs_c": "c.-407-532A>G",
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"transcript": "NM_001414329.1",
"protein_id": "NP_001401258.1",
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},
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],
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"gene_symbol": "M6PR",
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},
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "M6PR",
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"hgvs_c": "c.-337-550A>G",
"hgvs_p": null,
"transcript": "ENST00000544245.1",
"protein_id": "ENSP00000439968.1",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "n.124-532A>G",
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"transcript": "ENST00000540837.1",
"protein_id": null,
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},
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],
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},
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],
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"gene_symbol": "M6PR",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "M6PR",
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"hgvs_c": "n.159-532A>G",
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"transcript": "NR_182276.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "M6PR",
"gene_hgnc_id": 6752,
"hgvs_c": "c.-2+118A>G",
"hgvs_p": null,
"transcript": "XM_047428850.1",
"protein_id": "XP_047284806.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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}
],
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"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.041,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000000412.8",
"gene_symbol": "M6PR",
"hgnc_id": 6752,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-1-532A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}