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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: 10-92072844-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=92072844&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 92072844,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000265997.5",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1869+8476C>T",
"hgvs_p": null,
"transcript": "NM_014912.5",
"protein_id": "NP_055727.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7781,
"mane_select": "ENST00000265997.5",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1869+8476C>T",
"hgvs_p": null,
"transcript": "ENST00000265997.5",
"protein_id": "ENSP00000265997.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7781,
"mane_select": "NM_014912.5",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1827+8476C>T",
"hgvs_p": null,
"transcript": "ENST00000412050.8",
"protein_id": "ENSP00000398310.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7664,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1869+8476C>T",
"hgvs_p": null,
"transcript": "ENST00000614585.4",
"protein_id": "ENSP00000482128.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5789,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1827+8476C>T",
"hgvs_p": null,
"transcript": "NM_001178137.2",
"protein_id": "NP_001171608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7697,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1920+8476C>T",
"hgvs_p": null,
"transcript": "XM_006717715.4",
"protein_id": "XP_006717778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
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"cds_length": 2148,
"cdna_start": null,
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"cdna_length": 7832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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": 10,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1920+8476C>T",
"hgvs_p": null,
"transcript": "XM_024447893.2",
"protein_id": "XP_024303661.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7800,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1920+8476C>T",
"hgvs_p": null,
"transcript": "XM_024447894.2",
"protein_id": "XP_024303662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7873,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1920+8476C>T",
"hgvs_p": null,
"transcript": "XM_024447895.2",
"protein_id": "XP_024303663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "CPEB3",
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"hgvs_c": "c.1920+8476C>T",
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"transcript": "XM_047424807.1",
"protein_id": "XP_047280763.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"gene_symbol": "CPEB3",
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"hgvs_c": "c.1896+8476C>T",
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},
{
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"consequences": [
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],
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],
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},
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],
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"gene_symbol": "CPEB3",
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},
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},
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"gene_symbol": "CPEB3",
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},
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],
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"gene_symbol": "CPEB3",
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"hgvs_c": "c.1638+8476C>T",
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},
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],
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"gene_symbol": "CPEB3",
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"hgvs_c": "c.1569+8476C>T",
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{
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],
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.141285,
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"gnomad_genomes_ac": 21483,
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"gnomad_genomes_homalt": 1825,
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"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.15,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000265997.5",
"gene_symbol": "CPEB3",
"hgnc_id": 21746,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1869+8476C>T",
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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
}