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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: 16-81939975-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=81939975&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLCG2",
"hgnc_id": 9066,
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Arg1133Ser",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_002661.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9941,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9062135815620422,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8666,
"cdna_start": 3578,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_002661.5",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Arg1133Ser",
"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": "S",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8666,
"cdna_start": 3578,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000564138.6",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Arg1133Ser",
"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": "S",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "R",
"aa_start": 1184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4423,
"cdna_start": 3728,
"cds_end": null,
"cds_length": 3951,
"cds_start": 3550,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000902427.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3550C>A",
"hgvs_p": "p.Arg1184Ser",
"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": "S",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": 3886,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001425749.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Arg1133Ser",
"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": "S",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4486,
"cdna_start": 3789,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001425750.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Arg1133Ser",
"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": "S",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": 3937,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001425751.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Arg1133Ser",
"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": "S",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": 3857,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000565054.7",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Arg1133Ser",
"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": "S",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4312,
"cdna_start": 3797,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000697580.2",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Arg1133Ser",
"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": "S",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4685,
"cdna_start": 3986,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000902425.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Arg1133Ser",
"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": "S",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4412,
"cdna_start": 3715,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000902431.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3397C>A",
"hgvs_p": "p.Arg1133Ser",
"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": "S",
"aa_end": null,
"aa_length": 1263,
"aa_ref": "R",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 3541,
"cds_end": null,
"cds_length": 3792,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000902429.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3391C>A",
"hgvs_p": "p.Arg1131Ser",
"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": "S",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "R",
"aa_start": 1130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 3538,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3388,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000902430.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3388C>A",
"hgvs_p": "p.Arg1130Ser",
"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": "S",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 1121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4211,
"cdna_start": 3517,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3361,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000902428.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3361C>A",
"hgvs_p": "p.Arg1121Ser",
"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": "S",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "R",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 3478,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3292,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000902426.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3292C>A",
"hgvs_p": "p.Arg1098Ser",
"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": "S",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "R",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 3439,
"cds_end": null,
"cds_length": 3681,
"cds_start": 3280,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000697564.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3280C>A",
"hgvs_p": "p.Arg1094Ser",
"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": "S",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 3456,
"cds_end": null,
"cds_length": 3654,
"cds_start": 3253,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000947323.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3253C>A",
"hgvs_p": "p.Arg1085Ser",
"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": "S",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "R",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 3468,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3196,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000697583.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3196C>A",
"hgvs_p": "p.Arg1066Ser",
"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": "S",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "R",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": 3476,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3196,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000697584.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3196C>A",
"hgvs_p": "p.Arg1066Ser",
"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": "S",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "R",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4134,
"cdna_start": 3429,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3196,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000697585.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3196C>A",
"hgvs_p": "p.Arg1066Ser",
"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": "S",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "R",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 3362,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3196,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000697586.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.3196C>A",
"hgvs_p": "p.Arg1066Ser",
"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": "S",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "R",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 3340,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3196,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000697587.1",
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