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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: X-47169518-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47169518&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RBM10",
"hgnc_id": 9896,
"hgvs_c": "c.396+20C>G",
"hgvs_p": null,
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001204468.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 930,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": null,
"cds_end": null,
"cds_length": 2793,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005676.5",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.201+20C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377604.8",
"protein_coding": true,
"protein_id": "NP_005667.2",
"strand": true,
"transcript": "NM_005676.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 930,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": null,
"cds_end": null,
"cds_length": 2793,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377604.8",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.201+20C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005676.5",
"protein_coding": true,
"protein_id": "ENSP00000366829.3",
"strand": true,
"transcript": "ENST00000377604.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 995,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3201,
"cdna_start": null,
"cds_end": null,
"cds_length": 2988,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000329236.8",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.396+20C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328848.8",
"strand": true,
"transcript": "ENST00000329236.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 852,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": null,
"cds_end": null,
"cds_length": 2559,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000628161.2",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.201+20C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486115.1",
"strand": true,
"transcript": "ENST00000628161.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 995,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": null,
"cds_end": null,
"cds_length": 2988,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001204468.2",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.396+20C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191397.1",
"strand": true,
"transcript": "NM_001204468.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 994,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": null,
"cds_end": null,
"cds_length": 2985,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440861.1",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.396+20C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427790.1",
"strand": true,
"transcript": "NM_001440861.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 976,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": null,
"cds_end": null,
"cds_length": 2931,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916920.1",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.339+20C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586979.1",
"strand": true,
"transcript": "ENST00000916920.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 976,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": null,
"cds_end": null,
"cds_length": 2931,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916922.1",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.339+20C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586981.1",
"strand": true,
"transcript": "ENST00000916922.1",
"transcript_support_level": null
},
{
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"aa_length": 975,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4041,
"cdna_start": null,
"cds_end": null,
"cds_length": 2928,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916921.1",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.339+20C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586980.1",
"strand": true,
"transcript": "ENST00000916921.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": 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": 2928,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916923.1",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.339+20C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586982.1",
"strand": true,
"transcript": "ENST00000916923.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000916926.1",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.339+20C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000586985.1",
"strand": true,
"transcript": "ENST00000916926.1",
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},
{
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000864489.1",
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"protein_coding": true,
"protein_id": "ENSP00000534548.1",
"strand": true,
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},
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"protein_id": "ENSP00000534550.1",
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},
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000864492.1",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000864492.1",
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},
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],
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},
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"consequences": [
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],
"exon_count": 24,
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"feature": "NM_001204467.2",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.201+20C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001191396.1",
"strand": true,
"transcript": "NM_001204467.2",
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},
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],
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"feature": "ENST00000864483.1",
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"hgvs_c": "c.201+20C>G",
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},
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},
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],
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"feature": "ENST00000864485.1",
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],
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"feature": "ENST00000864500.1",
"gene_hgnc_id": 9896,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000534559.1",
"strand": true,
"transcript": "ENST00000864500.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
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"feature": "ENST00000916927.1",
"gene_hgnc_id": 9896,
"gene_symbol": "RBM10",
"hgvs_c": "c.201+20C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000586986.1",
"strand": true,
"transcript": "ENST00000916927.1",
"transcript_support_level": null
},
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