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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: 10-49842019-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=49842019&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PARG",
"hgnc_id": 8605,
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Ile824Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_003631.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7699999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 976,
"aa_ref": "I",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 2774,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2472,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_003631.5",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Ile824Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000616448.2",
"protein_coding": true,
"protein_id": "NP_003622.2",
"strand": false,
"transcript": "NM_003631.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 976,
"aa_ref": "I",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 2774,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2472,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000616448.2",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Ile824Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003631.5",
"protein_coding": true,
"protein_id": "ENSP00000484285.1",
"strand": false,
"transcript": "ENST00000616448.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 976,
"aa_ref": "I",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 2608,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2472,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000402038.7",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Ile824Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384408.3",
"strand": false,
"transcript": "ENST00000402038.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 976,
"aa_ref": "I",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7435,
"cdna_start": 2773,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2472,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000941174.1",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Ile824Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611233.1",
"strand": false,
"transcript": "ENST00000941174.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 945,
"aa_ref": "I",
"aa_start": 793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4151,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2379,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934076.1",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2379C>A",
"hgvs_p": "p.Ile793Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604135.1",
"strand": false,
"transcript": "ENST00000934076.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 935,
"aa_ref": "I",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4057,
"cdna_start": 2648,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2349,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000941177.1",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2349C>A",
"hgvs_p": "p.Ile783Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611236.1",
"strand": false,
"transcript": "ENST00000941177.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 929,
"aa_ref": "I",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4103,
"cdna_start": 2583,
"cds_end": null,
"cds_length": 2790,
"cds_start": 2331,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000941176.1",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2331C>A",
"hgvs_p": "p.Ile777Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611235.1",
"strand": false,
"transcript": "ENST00000941176.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 894,
"aa_ref": "I",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2226,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001303486.3",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2226C>A",
"hgvs_p": "p.Ile742Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290415.1",
"strand": false,
"transcript": "NM_001303486.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 894,
"aa_ref": "I",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 2348,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2226,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001324381.3",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2226C>A",
"hgvs_p": "p.Ile742Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311310.1",
"strand": false,
"transcript": "NM_001324381.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 868,
"aa_ref": "I",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": 2707,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2148,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001303487.3",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2148C>A",
"hgvs_p": "p.Ile716Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290416.1",
"strand": false,
"transcript": "NM_001303487.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 562,
"aa_ref": "I",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1230,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001303489.3",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.1230C>A",
"hgvs_p": "p.Ile410Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290418.1",
"strand": false,
"transcript": "NM_001303489.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 359,
"aa_ref": "I",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1080,
"cds_start": 621,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000941175.1",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.621C>A",
"hgvs_p": "p.Ile207Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611234.1",
"strand": false,
"transcript": "ENST00000941175.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 264,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 603,
"cds_end": null,
"cds_length": 795,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865657.1",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.336C>A",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535716.1",
"strand": false,
"transcript": "ENST00000865657.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 935,
"aa_ref": "I",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4171,
"cdna_start": 2651,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2349,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011540305.2",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2349C>A",
"hgvs_p": "p.Ile783Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538607.1",
"strand": false,
"transcript": "XM_011540305.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 878,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3818,
"cdna_start": null,
"cds_end": null,
"cds_length": 2637,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941178.1",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "c.2353+15287C>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611237.1",
"strand": false,
"transcript": "ENST00000941178.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000610922.1",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "n.*326C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000481064.1",
"strand": false,
"transcript": "ENST00000610922.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000614063.4",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "n.*2153C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000480645.1",
"strand": false,
"transcript": "ENST00000614063.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NR_130168.3",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "n.2774C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_130168.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NR_130169.3",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "n.1720C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_130169.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4016,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_136752.3",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "n.2707C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_136752.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_136753.3",
"gene_hgnc_id": 8605,
"gene_symbol": "PARG",
"hgvs_c": "n.1787C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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