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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: 2-44329121-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=44329121&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 44329121,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000409411.6",
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1087-9C>G",
"hgvs_p": null,
"transcript": "NM_001171613.2",
"protein_id": "NP_001165084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": "ENST00000409411.6",
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1087-9C>G",
"hgvs_p": null,
"transcript": "ENST00000409411.6",
"protein_id": "ENSP00000387095.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": "NM_001171613.2",
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1354-9C>G",
"hgvs_p": null,
"transcript": "ENST00000260648.10",
"protein_id": "ENSP00000260648.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": -4,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3672,
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1354-9C>G",
"hgvs_p": null,
"transcript": "ENST00000409936.5",
"protein_id": "ENSP00000386543.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": -4,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5212,
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1168-9C>G",
"hgvs_p": null,
"transcript": "ENST00000378511.7",
"protein_id": "ENSP00000367772.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 665,
"cds_start": -4,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2315,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "n.1354-9C>G",
"hgvs_p": null,
"transcript": "ENST00000425263.5",
"protein_id": "ENSP00000391456.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "n.1354-9C>G",
"hgvs_p": null,
"transcript": "ENST00000426481.5",
"protein_id": "ENSP00000409480.1",
"transcript_support_level": 1,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1354-9C>G",
"hgvs_p": null,
"transcript": "NM_001171603.1",
"protein_id": "NP_001165074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": -4,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6307,
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1354-9C>G",
"hgvs_p": null,
"transcript": "NM_001171606.2",
"protein_id": "NP_001165077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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],
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"gene_symbol": "PREPL",
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"transcript": "NM_001374275.1",
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},
{
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],
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"gene_symbol": "PREPL",
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"hgvs_c": "c.1354-9C>G",
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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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"dbsnp": "rs755166149",
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"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000409411.6",
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"effects": [
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],
"clinvar_disease": " 22, congenital,Myasthenic syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Myasthenic syndrome, congenital, 22",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}