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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: 1-240882312-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=240882312&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 240882312,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000440928.6",
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null,
"transcript": "NM_001364886.1",
"protein_id": "NP_001351815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": "ENST00000440928.6",
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null,
"transcript": "ENST00000440928.6",
"protein_id": "ENSP00000404399.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": "NM_001364886.1",
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null,
"transcript": "ENST00000366565.5",
"protein_id": "ENSP00000355523.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2494,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null,
"transcript": "ENST00000366564.5",
"protein_id": "ENSP00000355522.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": -4,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2295,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.227-12193C>G",
"hgvs_p": null,
"transcript": "ENST00000348120.6",
"protein_id": "ENSP00000341242.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1980,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null,
"transcript": "ENST00000688633.1",
"protein_id": "ENSP00000509822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2635,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null,
"transcript": "NM_002924.6",
"protein_id": "NP_002915.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2495,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null,
"transcript": "ENST00000688863.1",
"protein_id": "ENSP00000509381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2605,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null,
"transcript": "NM_001282775.2",
"protein_id": "NP_001269704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": -4,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2522,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null,
"transcript": "ENST00000366563.5",
"protein_id": "ENSP00000355521.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": -4,
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"cdna_start": null,
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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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null,
"transcript": "ENST00000691979.1",
"protein_id": "ENSP00000510676.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "RGS7",
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"hgvs_c": "c.386-12193C>G",
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"transcript": "NM_001282778.2",
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},
{
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],
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"gene_symbol": "RGS7",
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"hgvs_c": "c.386-12193C>G",
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"transcript": "ENST00000686908.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "RGS7",
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},
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],
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"transcript": "ENST00000690539.1",
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},
{
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],
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"gene_symbol": "RGS7",
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"hgvs_c": "c.335-12193C>G",
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},
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],
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"gene_symbol": "RGS7",
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"hgvs_c": "c.335-12193C>G",
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},
{
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],
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"gene_symbol": "RGS7",
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"hgvs_c": "c.308-12193C>G",
"hgvs_p": null,
"transcript": "NM_001350113.2",
"protein_id": "NP_001337042.1",
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},
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],
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"gene_symbol": "RGS7",
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},
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},
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"consequences": [
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],
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"intron_rank": 7,
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"gene_symbol": "RGS7",
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"transcript": "ENST00000688703.1",
"protein_id": "ENSP00000510116.1",
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},
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "RGS7",
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"hgvs_c": "c.308-12193C>G",
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"transcript": "ENST00000690614.1",
"protein_id": "ENSP00000509835.1",
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.441,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000440928.6",
"gene_symbol": "RGS7",
"hgnc_id": 10003,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.386-12193C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}