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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: 16-81927165-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=81927165&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLCG2",
"hgnc_id": 9066,
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Glu834Gly",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002661.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.1053,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Familial cold autoinflammatory syndrome 3",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4477430582046509,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8666,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_002661.5",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Glu834Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000564138.6",
"protein_coding": true,
"protein_id": "NP_002652.2",
"strand": true,
"transcript": "NM_002661.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8666,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000564138.6",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Glu834Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002661.5",
"protein_coding": true,
"protein_id": "ENSP00000482457.1",
"strand": true,
"transcript": "ENST00000564138.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "E",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4423,
"cdna_start": 2832,
"cds_end": null,
"cds_length": 3951,
"cds_start": 2654,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000902427.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Glu885Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572486.1",
"strand": true,
"transcript": "ENST00000902427.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": 2990,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001425749.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Glu834Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412678.1",
"strand": true,
"transcript": "NM_001425749.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4486,
"cdna_start": 2893,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001425750.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Glu834Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412679.1",
"strand": true,
"transcript": "NM_001425750.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": 3041,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001425751.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Glu834Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412680.1",
"strand": true,
"transcript": "NM_001425751.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": 2961,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000565054.7",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Glu834Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520638.1",
"strand": true,
"transcript": "ENST00000565054.7",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4312,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000697580.2",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Glu834Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520637.1",
"strand": true,
"transcript": "ENST00000697580.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4685,
"cdna_start": 3090,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000902425.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Glu834Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572484.1",
"strand": true,
"transcript": "ENST00000902425.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4412,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000902431.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Glu834Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572490.1",
"strand": true,
"transcript": "ENST00000902431.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1263,
"aa_ref": "E",
"aa_start": 832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 2645,
"cds_end": null,
"cds_length": 3792,
"cds_start": 2495,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000902429.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2495A>G",
"hgvs_p": "p.Glu832Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572488.1",
"strand": true,
"transcript": "ENST00000902429.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "E",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 2642,
"cds_end": null,
"cds_length": 3789,
"cds_start": 2492,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000902430.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2492A>G",
"hgvs_p": "p.Glu831Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572489.1",
"strand": true,
"transcript": "ENST00000902430.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "E",
"aa_start": 822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4211,
"cdna_start": 2621,
"cds_end": null,
"cds_length": 3762,
"cds_start": 2465,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000902428.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2465A>G",
"hgvs_p": "p.Glu822Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572487.1",
"strand": true,
"transcript": "ENST00000902428.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "E",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 2582,
"cds_end": null,
"cds_length": 3693,
"cds_start": 2396,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000902426.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2396A>G",
"hgvs_p": "p.Glu799Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572485.1",
"strand": true,
"transcript": "ENST00000902426.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "E",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 2543,
"cds_end": null,
"cds_length": 3681,
"cds_start": 2384,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000697564.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2384A>G",
"hgvs_p": "p.Glu795Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513340.1",
"strand": true,
"transcript": "ENST00000697564.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "E",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 3654,
"cds_start": 2357,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000947323.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2357A>G",
"hgvs_p": "p.Glu786Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617382.1",
"strand": true,
"transcript": "ENST00000947323.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "E",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 3597,
"cds_start": 2300,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000697583.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Glu767Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513349.1",
"strand": true,
"transcript": "ENST00000697583.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "E",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": 2580,
"cds_end": null,
"cds_length": 3597,
"cds_start": 2300,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000697584.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Glu767Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513350.1",
"strand": true,
"transcript": "ENST00000697584.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "E",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4134,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 3597,
"cds_start": 2300,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000697585.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Glu767Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513351.1",
"strand": true,
"transcript": "ENST00000697585.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "E",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 3597,
"cds_start": 2300,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000697586.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Glu767Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513352.1",
"strand": true,
"transcript": "ENST00000697586.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "E",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 2444,
"cds_end": null,
"cds_length": 3597,
"cds_start": 2300,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000697587.1",
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