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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: 20-41168825-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=41168825&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLCG1",
"hgnc_id": 9065,
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_002660.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "MIR6871",
"hgnc_id": 49964,
"hgvs_c": "n.-198T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_106931.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.083,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18618378043174744,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1291,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7092,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 3876,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_002660.3",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000685551.1",
"protein_coding": true,
"protein_id": "NP_002651.2",
"strand": true,
"transcript": "NM_002660.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1291,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7092,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 3876,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000685551.1",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002660.3",
"protein_coding": true,
"protein_id": "ENSP00000508698.1",
"strand": true,
"transcript": "ENST00000685551.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7395,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000373271.5",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362368.1",
"strand": true,
"transcript": "ENST00000373271.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1291,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5285,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 3876,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000244007.7",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000244007.3",
"strand": true,
"transcript": "ENST00000244007.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7089,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_182811.2",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_877963.1",
"strand": true,
"transcript": "NM_182811.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6157,
"cdna_start": 2664,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000896054.1",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566113.1",
"strand": true,
"transcript": "ENST00000896054.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1282,
"aa_ref": "I",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5231,
"cdna_start": 2583,
"cds_end": null,
"cds_length": 3849,
"cds_start": 2411,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000896055.1",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2411T>A",
"hgvs_p": "p.Ile804Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566114.1",
"strand": true,
"transcript": "ENST00000896055.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1258,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": 2677,
"cds_end": null,
"cds_length": 3777,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000930632.1",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600691.1",
"strand": true,
"transcript": "ENST00000930632.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "I",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 3768,
"cds_start": 2330,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000896056.1",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Ile777Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566115.1",
"strand": true,
"transcript": "ENST00000896056.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7209,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 3993,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_005260438.3",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005260495.1",
"strand": true,
"transcript": "XM_005260438.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 959,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047440207.1",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296163.1",
"strand": true,
"transcript": "XM_047440207.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 906,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 2721,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011528867.3",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527169.1",
"strand": true,
"transcript": "XM_011528867.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 906,
"aa_ref": "I",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 2721,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047440208.1",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.2438T>A",
"hgvs_p": "p.Ile813Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296164.1",
"strand": true,
"transcript": "XM_047440208.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1051,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000477870.5",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "n.332T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000477870.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000483175.5",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "n.73T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000483175.5",
"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": 583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000617873.4",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "n.269T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000617873.4",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 330,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000619272.2",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "n.27T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000619272.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 544,
"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000612731.2",
"gene_hgnc_id": 9065,
"gene_symbol": "PLCG1",
"hgvs_c": "c.-17T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485760.1",
"strand": true,
"transcript": "ENST00000612731.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "miRNA",
"canonical": false,
"cdna_end": null,
"cdna_length": 56,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000613433.1",
"gene_hgnc_id": 49964,
"gene_symbol": "MIR6871",
"hgvs_c": "n.-198T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000613433.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 56,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_106931.1",
"gene_hgnc_id": 49964,
"gene_symbol": "MIR6871",
"hgvs_c": "n.-198T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_106931.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "miRNA",
"canonical": null,
"cdna_end": null,
"cdna_length": 22,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 1,
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