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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: 22-35894660-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=35894660&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RBFOX2",
"hgnc_id": 9906,
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001082578.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 33372,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7212,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349999.2",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000695854.1",
"protein_coding": true,
"protein_id": "NP_001336928.2",
"strand": false,
"transcript": "NM_001349999.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7212,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695854.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001349999.2",
"protein_coding": true,
"protein_id": "ENSP00000512219.1",
"strand": false,
"transcript": "ENST00000695854.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7224,
"cdna_start": null,
"cds_end": null,
"cds_length": 1356,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438146.7",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413035.2",
"strand": false,
"transcript": "ENST00000438146.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 370,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": null,
"cds_end": null,
"cds_length": 1113,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359369.8",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.-34+44187G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352328.4",
"strand": false,
"transcript": "ENST00000359369.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695807.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "n.-34+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512187.1",
"strand": false,
"transcript": "ENST00000695807.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921516.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591575.1",
"strand": false,
"transcript": "ENST00000921516.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921518.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591577.1",
"strand": false,
"transcript": "ENST00000921518.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 486,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": null,
"cds_end": null,
"cds_length": 1461,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921515.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591574.1",
"strand": false,
"transcript": "ENST00000921515.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 453,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": null,
"cds_end": null,
"cds_length": 1362,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908673.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578732.1",
"strand": false,
"transcript": "ENST00000908673.1",
"transcript_support_level": null
},
{
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"aa_length": 452,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": null,
"cds_end": null,
"cds_length": 1359,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908672.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578731.1",
"strand": false,
"transcript": "ENST00000908672.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001082578.4",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001076047.2",
"strand": false,
"transcript": "NM_001082578.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
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],
"exon_count": 14,
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"feature": "NM_001082579.3",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001076048.2",
"strand": false,
"transcript": "NM_001082579.3",
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},
{
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],
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"feature": "ENST00000908669.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578728.1",
"strand": false,
"transcript": "ENST00000908669.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001394112.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001381041.1",
"strand": false,
"transcript": "NM_001394112.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "NM_001394113.1",
"gene_hgnc_id": 9906,
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"hgvs_c": "c.237+44187G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001381042.1",
"strand": false,
"transcript": "NM_001394113.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 14,
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"exon_rank_end": null,
"feature": "ENST00000908671.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
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"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578730.1",
"strand": false,
"transcript": "ENST00000908671.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000908674.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
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"protein_coding": true,
"protein_id": "ENSP00000578733.1",
"strand": false,
"transcript": "ENST00000908674.1",
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},
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],
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"feature": "NM_001394108.1",
"gene_hgnc_id": 9906,
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"protein_id": "NP_001381037.1",
"strand": false,
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},
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],
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"feature": "NM_001394114.1",
"gene_hgnc_id": 9906,
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"hgvs_c": "c.237+44187G>A",
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"strand": false,
"transcript": "NM_001394114.1",
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},
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000908670.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
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"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578729.1",
"strand": false,
"transcript": "ENST00000908670.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1311,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394115.1",
"gene_hgnc_id": 9906,
"gene_symbol": "RBFOX2",
"hgvs_c": "c.237+44187G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001381044.1",
"strand": false,
"transcript": "NM_001394115.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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