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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: 15-34327148-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34327148&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34327148,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000354181.8",
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.271+9262A>G",
"hgvs_p": null,
"transcript": "NM_001365088.1",
"protein_id": "NP_001352017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1150,
"cds_start": -4,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8072,
"mane_select": "ENST00000354181.8",
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.271+9262A>G",
"hgvs_p": null,
"transcript": "ENST00000354181.8",
"protein_id": "ENSP00000346112.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1150,
"cds_start": -4,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8072,
"mane_select": "NM_001365088.1",
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.271+9262A>G",
"hgvs_p": null,
"transcript": "ENST00000560611.5",
"protein_id": "ENSP00000454168.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1150,
"cds_start": -4,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4239,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.244+9262A>G",
"hgvs_p": null,
"transcript": "ENST00000558589.5",
"protein_id": "ENSP00000452776.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1141,
"cds_start": -4,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3866,
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.271+9262A>G",
"hgvs_p": null,
"transcript": "ENST00000397707.6",
"protein_id": "ENSP00000380819.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": -4,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4194,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.94+9262A>G",
"hgvs_p": null,
"transcript": "ENST00000397702.6",
"protein_id": "ENSP00000380814.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4096,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "c.94+9262A>G",
"hgvs_p": null,
"transcript": "ENST00000458406.6",
"protein_id": "ENSP00000387725.2",
"transcript_support_level": 1,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.271+9262A>G",
"hgvs_p": null,
"transcript": "ENST00000559664.5",
"protein_id": "ENSP00000453702.1",
"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": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A6",
"gene_hgnc_id": 10914,
"hgvs_c": "n.271+9262A>G",
"hgvs_p": null,
"transcript": "ENST00000561080.5",
"protein_id": "ENSP00000454069.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
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"cdna_start": null,
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "SLC12A6",
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"hgvs_c": "c.271+9262A>G",
"hgvs_p": null,
"transcript": "NM_133647.2",
"protein_id": "NP_598408.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"gene_symbol": "SLC12A6",
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"hgvs_c": "c.271+9262A>G",
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"transcript": "ENST00000558667.5",
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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": "SLC12A6",
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},
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],
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{
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],
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"gnomad_genomes_ac": 39323,
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"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": null,
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"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000354181.8",
"gene_symbol": "SLC12A6",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.271+9262A>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
}