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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: 17-44191649-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44191649&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44191649,
"ref": "T",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000538716.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "n.*1273T>A",
"hgvs_p": null,
"transcript": "ENST00000587326.1",
"protein_id": "ENSP00000467506.1",
"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": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
"hgvs_p": null,
"transcript": "NM_001076674.3",
"protein_id": "NP_001070142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": "ENST00000538716.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
"hgvs_p": null,
"transcript": "ENST00000538716.7",
"protein_id": "ENSP00000444565.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": "NM_001076674.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
"hgvs_p": null,
"transcript": "ENST00000319511.6",
"protein_id": "ENSP00000313214.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
"hgvs_p": null,
"transcript": "ENST00000357984.7",
"protein_id": "ENSP00000350672.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*1117T>A",
"hgvs_p": null,
"transcript": "ENST00000590235.5",
"protein_id": "ENSP00000465015.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "n.*1273T>A",
"hgvs_p": null,
"transcript": "ENST00000587326.1",
"protein_id": "ENSP00000467506.1",
"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": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "n.1565T>A",
"hgvs_p": null,
"transcript": "NR_148386.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "n.1901T>A",
"hgvs_p": null,
"transcript": "NR_148387.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "n.1656T>A",
"hgvs_p": null,
"transcript": "NR_148388.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "n.1823T>A",
"hgvs_p": null,
"transcript": "NR_148389.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "TMUB2",
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"hgvs_c": "n.2055T>A",
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"transcript": "NR_148390.2",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
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"transcript": "NM_001353177.2",
"protein_id": "NP_001340106.1",
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},
{
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"strand": true,
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],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
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"transcript": "NM_001353181.2",
"protein_id": "NP_001340110.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "TMUB2",
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"hgvs_c": "c.*566T>A",
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"transcript": "NM_001353184.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
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"transcript": "ENST00000587989.1",
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},
{
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],
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"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
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"transcript": "NM_001353180.2",
"protein_id": "NP_001340109.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
"hgvs_p": null,
"transcript": "NM_001353189.2",
"protein_id": "NP_001340118.1",
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*566T>A",
"hgvs_p": null,
"transcript": "NM_001353173.2",
"protein_id": "NP_001340102.1",
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},
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],
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},
{
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],
"exon_rank": 5,
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"intron_rank": null,
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"gene_symbol": "TMUB2",
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"transcript": "NM_001353176.2",
"protein_id": "NP_001340105.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
"hgvs_p": null,
"transcript": "NM_001353178.2",
"protein_id": "NP_001340107.1",
"transcript_support_level": null,
"aa_start": null,
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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": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.*785T>A",
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"transcript": "NM_001353182.2",
"protein_id": "NP_001340111.1",
"transcript_support_level": null,
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"mane_select": null,
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},
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},
{
"aa_ref": null,
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],
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}
],
"gene_symbol": "TMUB2",
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.057,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000538716.7",
"gene_symbol": "TMUB2",
"hgnc_id": 28459,
"effects": [
"3_prime_UTR_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.*785T>A",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000587097.6",
"gene_symbol": "ATXN7L3",
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"effects": [
"downstream_gene_variant"
],
"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
}