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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: 9-92307813-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92307813&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92307813,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000442668.7",
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2687-789T>C",
"hgvs_p": null,
"transcript": "NM_017948.6",
"protein_id": "NP_060418.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1167,
"cds_start": -4,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "ENST00000442668.7",
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2687-789T>C",
"hgvs_p": null,
"transcript": "ENST00000442668.7",
"protein_id": "ENSP00000401177.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1167,
"cds_start": -4,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "NM_017948.6",
"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": 11,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2483-789T>C",
"hgvs_p": null,
"transcript": "ENST00000358855.8",
"protein_id": "ENSP00000351723.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": -4,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2483-789T>C",
"hgvs_p": null,
"transcript": "ENST00000542053.5",
"protein_id": "ENSP00000440709.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": -4,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2687-789T>C",
"hgvs_p": null,
"transcript": "ENST00000432670.6",
"protein_id": "ENSP00000414112.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": -4,
"cds_end": null,
"cds_length": 2909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "n.*2542-789T>C",
"hgvs_p": null,
"transcript": "ENST00000360868.7",
"protein_id": "ENSP00000354115.3",
"transcript_support_level": 2,
"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": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "n.*2979-789T>C",
"hgvs_p": null,
"transcript": "ENST00000434228.5",
"protein_id": "ENSP00000415750.1",
"transcript_support_level": 2,
"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": 3400,
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "n.*2542-789T>C",
"hgvs_p": null,
"transcript": "ENST00000536593.5",
"protein_id": "ENSP00000446265.1",
"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": 4053,
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "n.2687-789T>C",
"hgvs_p": null,
"transcript": "ENST00000544867.5",
"protein_id": "ENSP00000439751.1",
"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": 4598,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2687-789T>C",
"hgvs_p": null,
"transcript": "NM_001438180.1",
"protein_id": "NP_001425109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1167,
"cds_start": -4,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
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"cdna_length": 4201,
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2687-789T>C",
"hgvs_p": null,
"transcript": "NM_001438181.1",
"protein_id": "NP_001425110.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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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"exon_count": 17,
"intron_rank": 10,
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"gene_symbol": "NOL8",
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"hgvs_c": "c.2687-789T>C",
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"transcript": "ENST00000545558.5",
"protein_id": "ENSP00000441140.1",
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"mane_select": null,
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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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"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2573-789T>C",
"hgvs_p": null,
"transcript": "NM_001330722.2",
"protein_id": "NP_001317651.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "NOL8",
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"hgvs_c": "c.2573-789T>C",
"hgvs_p": null,
"transcript": "ENST00000535387.5",
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},
{
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],
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"intron_rank": 11,
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"gene_symbol": "NOL8",
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"hgvs_c": "c.2483-789T>C",
"hgvs_p": null,
"transcript": "NM_001256394.2",
"protein_id": "NP_001243323.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 9,
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"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2483-789T>C",
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"transcript": "NM_001438004.1",
"protein_id": "NP_001424933.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "NOL8",
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"hgvs_c": "n.47-789T>C",
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"transcript": "ENST00000477862.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "n.365-789T>C",
"hgvs_p": null,
"transcript": "ENST00000538802.1",
"protein_id": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 8,
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"gene_symbol": "NOL8",
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"hgvs_c": "n.*217-789T>C",
"hgvs_p": null,
"transcript": "ENST00000545444.5",
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},
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],
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},
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],
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"gene_symbol": "NOL8",
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"hgvs_c": "c.2483-789T>C",
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"transcript": "XM_024447594.2",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2687-789T>C",
"hgvs_p": null,
"transcript": "XM_047423554.1",
"protein_id": "XP_047279510.1",
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"cds_start": -4,
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"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,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NOL8",
"gene_hgnc_id": 23387,
"hgvs_c": "c.2309-789T>C",
"hgvs_p": null,
"transcript": "XM_011518827.3",
"protein_id": "XP_011517129.1",
"transcript_support_level": null,
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{
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{
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],
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"gnomad_genomes_ac": 88839,
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"gnomad_genomes_homalt": 28530,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Benign",
"transcript": "ENST00000442668.7",
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"effects": [
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"inheritance_mode": "AR",
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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
}