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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: 6-85625246-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=85625246&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 85625246,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000369622.8",
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.667-1134G>T",
"hgvs_p": null,
"transcript": "NM_006372.5",
"protein_id": "NP_006363.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": "ENST00000369622.8",
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.667-1134G>T",
"hgvs_p": null,
"transcript": "ENST00000369622.8",
"protein_id": "ENSP00000358635.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": "NM_006372.5",
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.667-1134G>T",
"hgvs_p": null,
"transcript": "ENST00000355238.11",
"protein_id": "ENSP00000347380.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6443,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.373-1134G>T",
"hgvs_p": null,
"transcript": "ENST00000616122.5",
"protein_id": "ENSP00000484577.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6770,
"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": 40,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271793",
"gene_hgnc_id": null,
"hgvs_c": "n.667-1134G>T",
"hgvs_p": null,
"transcript": "ENST00000682083.1",
"protein_id": "ENSP00000506859.1",
"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": 5825,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.832-1134G>T",
"hgvs_p": null,
"transcript": "ENST00000710383.1",
"protein_id": "ENSP00000518240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2859,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.667-1134G>T",
"hgvs_p": null,
"transcript": "ENST00000676688.1",
"protein_id": "ENSP00000504706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2552,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.667-1134G>T",
"hgvs_p": null,
"transcript": "ENST00000678355.1",
"protein_id": "ENSP00000503783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2561,
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.667-1134G>T",
"hgvs_p": null,
"transcript": "NM_001439158.1",
"protein_id": "NP_001426087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
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"cdna_length": 7031,
"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,
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"exon_count": 12,
"intron_rank": 6,
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"gene_symbol": "SYNCRIP",
"gene_hgnc_id": 16918,
"hgvs_c": "c.667-1134G>T",
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"transcript": "NM_001439161.1",
"protein_id": "NP_001426090.1",
"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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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "SYNCRIP",
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"hgvs_c": "c.667-1134G>T",
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"transcript": "NM_001439162.1",
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},
{
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],
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"gene_symbol": "SYNCRIP",
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"transcript": "NM_001159675.2",
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},
{
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],
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"gene_symbol": "SYNCRIP",
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"hgvs_c": "c.667-1134G>T",
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},
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],
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"gene_symbol": "SYNCRIP",
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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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"gene_symbol": "SYNCRIP",
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"hgvs_c": "c.667-1134G>T",
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],
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],
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"gene_symbol": "SYNCRIP",
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},
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"consequences": [
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],
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"gene_symbol": "SYNCRIP",
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"hgvs_c": "c.667-1134G>T",
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},
{
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],
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}
],
"gene_symbol": "SYNCRIP",
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"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.503,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": 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": "ENST00000369622.8",
"gene_symbol": "SYNCRIP",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000682083.1",
"gene_symbol": "ENSG00000271793",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.667-1134G>T",
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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
}