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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: 4-143691747-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=143691747&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 143691747,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001168235.2",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FREM3",
"gene_hgnc_id": 25172,
"hgvs_c": "c.5275+1366A>G",
"hgvs_p": null,
"transcript": "NM_001168235.2",
"protein_id": "NP_001161707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2139,
"cds_start": null,
"cds_end": null,
"cds_length": 6420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329798.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168235.2"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FREM3",
"gene_hgnc_id": 25172,
"hgvs_c": "c.5275+1366A>G",
"hgvs_p": null,
"transcript": "ENST00000329798.5",
"protein_id": "ENSP00000332886.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2139,
"cds_start": null,
"cds_end": null,
"cds_length": 6420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001168235.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329798.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.863-47228T>C",
"hgvs_p": null,
"transcript": "ENST00000641328.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000641328.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.130+36701T>C",
"hgvs_p": null,
"transcript": "ENST00000641676.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000641676.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.188+36701T>C",
"hgvs_p": null,
"transcript": "ENST00000793857.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000793857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.186-3468T>C",
"hgvs_p": null,
"transcript": "ENST00000793858.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000793858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.198+36701T>C",
"hgvs_p": null,
"transcript": "ENST00000793860.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000793860.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.900+46592T>C",
"hgvs_p": null,
"transcript": "ENST00000793861.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000793861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.365+46592T>C",
"hgvs_p": null,
"transcript": "ENST00000793862.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000793862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.199+36701T>C",
"hgvs_p": null,
"transcript": "ENST00000793863.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000793863.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.188+36701T>C",
"hgvs_p": null,
"transcript": "ENST00000793864.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000793864.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "GUSBP5",
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"hgvs_c": "n.935+46592T>C",
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"transcript": "ENST00000793865.1",
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000793865.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.919+46592T>C",
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"transcript": "ENST00000793866.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "GUSBP5",
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"transcript": "ENST00000793867.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "GUSBP5",
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"hgvs_c": "n.894+46592T>C",
"hgvs_p": null,
"transcript": "ENST00000793868.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000793868.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.932+46592T>C",
"hgvs_p": null,
"transcript": "ENST00000793870.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "GUSBP5",
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"hgvs_c": "n.195+36701T>C",
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"transcript": "ENST00000793872.1",
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"biotype": "pseudogene",
"feature": "ENST00000793872.1"
},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.198+36701T>C",
"hgvs_p": null,
"transcript": "ENST00000793873.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000793873.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
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"transcript": "ENST00000793874.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "GUSBP5",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"biotype": "pseudogene",
"feature": "ENST00000793876.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.188+36701T>C",
"hgvs_p": null,
"transcript": "ENST00000793877.1",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "ENST00000793877.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GUSBP5",
"gene_hgnc_id": null,
"hgvs_c": "n.185+36701T>C",
"hgvs_p": null,
"transcript": "ENST00000793878.1",
"protein_id": null,
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{
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{
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{
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],
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"gene_symbol": "GUSBP5",
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"transcript": "ENST00000793891.1",
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"biotype": "pseudogene",
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],
"gene_symbol": "FREM3",
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"gnomad_genomes_af": 0.00000657531,
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"gnomad_genomes_ac": 1,
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"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",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.532,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001168235.2",
"gene_symbol": "FREM3",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000641328.2",
"gene_symbol": "GUSBP5",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.863-47228T>C",
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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
}