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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: 11-47248385-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47248385&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47248385,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001610.4",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.115-252G>A",
"hgvs_p": null,
"transcript": "NM_001610.4",
"protein_id": "NP_001601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "ENST00000672073.1",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.115-252G>A",
"hgvs_p": null,
"transcript": "ENST00000672073.1",
"protein_id": "ENSP00000500291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "NM_001610.4",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-166+30C>T",
"hgvs_p": null,
"transcript": "ENST00000616973.4",
"protein_id": "ENSP00000477707.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1919,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.115-252G>A",
"hgvs_p": null,
"transcript": "ENST00000256997.9",
"protein_id": "ENSP00000256997.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2200,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "n.56+30C>T",
"hgvs_p": null,
"transcript": "ENST00000527464.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1183,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-125+30C>T",
"hgvs_p": null,
"transcript": "NM_001251934.2",
"protein_id": "NP_001238863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1879,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.-166+30C>T",
"hgvs_p": null,
"transcript": "NM_001251935.2",
"protein_id": "NP_001238864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1920,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.115-252G>A",
"hgvs_p": null,
"transcript": "NM_001357016.2",
"protein_id": "NP_001343945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2111,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.115-252G>A",
"hgvs_p": null,
"transcript": "ENST00000672636.2",
"protein_id": "ENSP00000500571.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2111,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.30+100G>A",
"hgvs_p": null,
"transcript": "NM_001302489.2",
"protein_id": "NP_001289418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
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"cds_length": 1188,
"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,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "c.30+100G>A",
"hgvs_p": null,
"transcript": "ENST00000533929.7",
"protein_id": "ENSP00000432439.1",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 10,
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"gene_symbol": "ACP2",
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"hgvs_c": "c.114+291G>A",
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"transcript": "NM_001302490.2",
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},
{
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],
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"exon_count": 10,
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"gene_symbol": "ACP2",
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"hgvs_c": "c.114+291G>A",
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"transcript": "ENST00000527256.7",
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},
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],
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"gene_symbol": "ACP2",
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"hgvs_c": "c.115-252G>A",
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"transcript": "NM_001302491.2",
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},
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],
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ACP2",
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"hgvs_c": "c.115-252G>A",
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},
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],
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"transcript": "NM_001302492.2",
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},
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],
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"gene_symbol": "ACP2",
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"hgvs_c": "c.115-252G>A",
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"transcript": "ENST00000672787.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "NR1H3",
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"hgvs_c": "n.56+30C>T",
"hgvs_p": null,
"transcript": "ENST00000495866.5",
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],
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],
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},
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],
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"hgvs_c": "n.142-252G>A",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP2",
"gene_hgnc_id": 123,
"hgvs_c": "n.142-252G>A",
"hgvs_p": null,
"transcript": "ENST00000673184.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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{
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{
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],
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.006,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
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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
}