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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: 16-2254337-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2254337&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2254337,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000320225.10",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
"hgvs_p": null,
"transcript": "NM_080594.4",
"protein_id": "NP_542161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": "ENST00000320225.10",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
"hgvs_p": null,
"transcript": "ENST00000320225.10",
"protein_id": "ENSP00000315859.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": "NM_080594.4",
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
"hgvs_p": null,
"transcript": "ENST00000301730.12",
"protein_id": "ENSP00000301730.8",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1276,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
"hgvs_p": null,
"transcript": "ENST00000397086.6",
"protein_id": "ENSP00000380275.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2069,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
"hgvs_p": null,
"transcript": "ENST00000565678.5",
"protein_id": "ENSP00000457723.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2298,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
"hgvs_p": null,
"transcript": "ENST00000565870.5",
"protein_id": "ENSP00000457110.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1514,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.750-274C>T",
"hgvs_p": null,
"transcript": "ENST00000566458.5",
"protein_id": "ENSP00000456352.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2037,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
"hgvs_p": null,
"transcript": "NM_001286625.1",
"protein_id": "NP_001273554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2046,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
"hgvs_p": null,
"transcript": "NM_006711.5",
"protein_id": "NP_006702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
"hgvs_p": null,
"transcript": "ENST00000568631.5",
"protein_id": "ENSP00000457820.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 305,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1792,
"mane_select": null,
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"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": 8,
"intron_rank": 7,
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"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
"hgvs_p": null,
"transcript": "ENST00000561518.5",
"protein_id": "ENSP00000454461.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "RNPS1",
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"transcript": "NM_001286626.2",
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},
{
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"consequences": [
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],
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"gene_symbol": "RNPS1",
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"hgvs_c": "c.608-274C>T",
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"transcript": "NM_001286627.2",
"protein_id": "NP_001273556.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "RNPS1",
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"hgvs_c": "c.608-274C>T",
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"transcript": "ENST00000567147.5",
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},
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],
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},
{
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"strand": false,
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],
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"intron_rank": 6,
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"gene_symbol": "RNPS1",
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"transcript": "ENST00000561718.5",
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},
{
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"strand": false,
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],
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"intron_rank": 1,
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"gene_symbol": "RNPS1",
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"hgvs_c": "n.1283-274C>T",
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"transcript": "ENST00000562205.1",
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},
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "RNPS1",
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"hgvs_c": "n.3173-274C>T",
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"transcript": "ENST00000565243.2",
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},
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],
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},
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],
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 7,
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"gene_symbol": "RNPS1",
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"hgvs_c": "c.819-274C>T",
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"transcript": "XM_005255048.3",
"protein_id": "XP_005255105.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.819-274C>T",
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"transcript": "XM_005255049.5",
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},
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"transcript": "XM_047433516.1",
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}
],
"gene_symbol": "RNPS1",
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"dbsnp": "rs9796949",
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"hom_count_reference_population": 9035,
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"gnomad_genomes_af": 0.311839,
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"gnomad_genomes_ac": 47203,
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"gnomad_genomes_homalt": 9035,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.199,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000320225.10",
"gene_symbol": "RNPS1",
"hgnc_id": 10080,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.819-274C>T",
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},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000762559.1",
"gene_symbol": "ENSG00000299317",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.304+2344G>A",
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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
}