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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: 7-29057870-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29057870&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29057870,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000265394.10",
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1137+6191A>G",
"hgvs_p": null,
"transcript": "NM_031311.5",
"protein_id": "NP_112601.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": "ENST00000265394.10",
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1137+6191A>G",
"hgvs_p": null,
"transcript": "ENST00000265394.10",
"protein_id": "ENSP00000265394.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": "NM_031311.5",
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1137+6191A>G",
"hgvs_p": null,
"transcript": "ENST00000396276.7",
"protein_id": "ENSP00000379572.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1739,
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1179+6191A>G",
"hgvs_p": null,
"transcript": "NM_001371264.1",
"protein_id": "NP_001358193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3162,
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1137+6191A>G",
"hgvs_p": null,
"transcript": "NM_001348052.1",
"protein_id": "NP_001334981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2608,
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1137+6191A>G",
"hgvs_p": null,
"transcript": "NM_001348054.1",
"protein_id": "NP_001334983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2480,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1137+6191A>G",
"hgvs_p": null,
"transcript": "NM_001371255.1",
"protein_id": "NP_001358184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3401,
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1137+6191A>G",
"hgvs_p": null,
"transcript": "NM_001371256.1",
"protein_id": "NP_001358185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3215,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1137+6191A>G",
"hgvs_p": null,
"transcript": "NM_001371257.1",
"protein_id": "NP_001358186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3380,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CPVL",
"gene_hgnc_id": 14399,
"hgvs_c": "c.1137+6191A>G",
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"transcript": "NM_001371258.1",
"protein_id": "NP_001358187.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 15,
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"gene_symbol": "CPVL",
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"hgvs_c": "c.1137+6191A>G",
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"transcript": "NM_001371260.1",
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},
{
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],
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},
{
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],
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],
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],
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},
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],
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],
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],
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},
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],
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},
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],
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"gene_symbol": "CPVL",
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"hgvs_p": null,
"transcript": "ENST00000455893.6",
"protein_id": "ENSP00000403580.2",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CPVL",
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},
{
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Benign",
"transcript": "ENST00000265394.10",
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"effects": [
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}