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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: 4-184648647-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=184648647&ref=G&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": "CASP3",
"hgnc_id": 1504,
"hgvs_c": "c.-182-16C>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_004346.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PRIMPOL",
"hgnc_id": 26575,
"hgvs_c": "c.-138+43G>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000939781.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 15911,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004346.4",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-182-16C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308394.9",
"protein_coding": true,
"protein_id": "NP_004337.2",
"strand": false,
"transcript": "NM_004346.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000308394.9",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-182-16C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004346.4",
"protein_coding": true,
"protein_id": "ENSP00000311032.4",
"strand": false,
"transcript": "ENST00000308394.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000523916.5",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-16+748C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428929.1",
"strand": false,
"transcript": "ENST00000523916.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000700100.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-198C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514797.1",
"strand": false,
"transcript": "ENST00000700100.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000972043.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-160C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642102.1",
"strand": false,
"transcript": "ENST00000972043.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 560,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": null,
"cds_end": null,
"cds_length": 1683,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939781.1",
"gene_hgnc_id": 26575,
"gene_symbol": "PRIMPOL",
"hgvs_c": "c.-138+43G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609840.1",
"strand": true,
"transcript": "ENST00000939781.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354777.2",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-144-16C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341706.1",
"strand": false,
"transcript": "NM_001354777.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032991.3",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-16+748C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116786.1",
"strand": false,
"transcript": "NM_032991.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700101.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-16+1345C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514798.1",
"strand": false,
"transcript": "ENST00000700101.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872339.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-304-16C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542398.1",
"strand": false,
"transcript": "ENST00000872339.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2831,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872340.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-374-16C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542399.1",
"strand": false,
"transcript": "ENST00000872340.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872341.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-255-16C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542400.1",
"strand": false,
"transcript": "ENST00000872341.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000872342.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-182-16C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542401.1",
"strand": false,
"transcript": "ENST00000872342.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3104,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000872343.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-182-16C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542402.1",
"strand": false,
"transcript": "ENST00000872343.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872344.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-182-16C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542403.1",
"strand": false,
"transcript": "ENST00000872344.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872345.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-144-16C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542404.1",
"strand": false,
"transcript": "ENST00000872345.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872346.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-182-16C>A",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542405.1",
"strand": false,
"transcript": "ENST00000872346.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000939939.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-16+1650C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609998.1",
"strand": false,
"transcript": "ENST00000939939.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000939940.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-180-18C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000609999.1",
"strand": false,
"transcript": "ENST00000939940.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939941.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-89+748C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610000.1",
"strand": false,
"transcript": "ENST00000939941.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939943.1",
"gene_hgnc_id": 1504,
"gene_symbol": "CASP3",
"hgvs_c": "c.-16+766C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
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