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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: 9-2032845-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2032845&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2032845,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000349721.8",
"consequences": [
{
"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": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.226-107G>T",
"hgvs_p": null,
"transcript": "NM_003070.5",
"protein_id": "NP_003061.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": -4,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": "ENST00000349721.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.226-107G>T",
"hgvs_p": null,
"transcript": "ENST00000349721.8",
"protein_id": "ENSP00000265773.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": -4,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": "NM_003070.5",
"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": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.226-107G>T",
"hgvs_p": null,
"transcript": "ENST00000382203.5",
"protein_id": "ENSP00000371638.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": -4,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5867,
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.226-107G>T",
"hgvs_p": null,
"transcript": "ENST00000450198.6",
"protein_id": "ENSP00000392081.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1514,
"cds_start": -4,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5602,
"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": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.226-107G>T",
"hgvs_p": null,
"transcript": "NM_001289396.2",
"protein_id": "NP_001276325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": -4,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5863,
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.226-107G>T",
"hgvs_p": null,
"transcript": "NM_139045.4",
"protein_id": "NP_620614.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1572,
"cds_start": -4,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5694,
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.226-107G>T",
"hgvs_p": null,
"transcript": "ENST00000357248.8",
"protein_id": "ENSP00000349788.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1572,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5855,
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.226-107G>T",
"hgvs_p": null,
"transcript": "ENST00000382194.6",
"protein_id": "ENSP00000371629.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1572,
"cds_start": -4,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5679,
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.226-107G>T",
"hgvs_p": null,
"transcript": "NM_001289397.2",
"protein_id": "NP_001276326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1514,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5520,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.-5-6621G>T",
"hgvs_p": null,
"transcript": "ENST00000704350.1",
"protein_id": "ENSP00000515861.1",
"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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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.226-107G>T",
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"transcript": "ENST00000637134.2",
"protein_id": "ENSP00000489667.2",
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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": "SMARCA2",
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},
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],
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},
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],
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"gene_symbol": "SMARCA2",
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},
{
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],
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"gene_symbol": "SMARCA2",
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{
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],
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"dbsnp": "rs1112534",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.8199999928474426,
"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,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.372,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000349721.8",
"gene_symbol": "SMARCA2",
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"effects": [
"intron_variant"
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"inheritance_mode": "AD",
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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
}