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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-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=41168825&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 41168825,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000685551.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.2438T>C",
"hgvs_p": "p.Ile813Thr",
"transcript": "NM_002660.3",
"protein_id": "NP_002651.2",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1291,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 7092,
"mane_select": "ENST00000685551.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.2438T>C",
"hgvs_p": "p.Ile813Thr",
"transcript": "ENST00000685551.1",
"protein_id": "ENSP00000508698.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1291,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 7092,
"mane_select": "NM_002660.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.2438T>C",
"hgvs_p": "p.Ile813Thr",
"transcript": "ENST00000373271.5",
"protein_id": "ENSP00000362368.1",
"transcript_support_level": 1,
"aa_start": 813,
"aa_end": null,
"aa_length": 1290,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 7395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.2438T>C",
"hgvs_p": "p.Ile813Thr",
"transcript": "ENST00000244007.7",
"protein_id": "ENSP00000244007.3",
"transcript_support_level": 5,
"aa_start": 813,
"aa_end": null,
"aa_length": 1291,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 2635,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.2438T>C",
"hgvs_p": "p.Ile813Thr",
"transcript": "NM_182811.2",
"protein_id": "NP_877963.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1290,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3873,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 7089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.2438T>C",
"hgvs_p": "p.Ile813Thr",
"transcript": "XM_005260438.3",
"protein_id": "XP_005260495.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1330,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 7209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.2438T>C",
"hgvs_p": "p.Ile813Thr",
"transcript": "XM_047440207.1",
"protein_id": "XP_047296163.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 959,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.2438T>C",
"hgvs_p": "p.Ile813Thr",
"transcript": "XM_011528867.3",
"protein_id": "XP_011527169.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 906,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.2438T>C",
"hgvs_p": "p.Ile813Thr",
"transcript": "XM_047440208.1",
"protein_id": "XP_047296164.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 906,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "n.332T>C",
"hgvs_p": null,
"transcript": "ENST00000477870.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "n.73T>C",
"hgvs_p": null,
"transcript": "ENST00000483175.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "n.269T>C",
"hgvs_p": null,
"transcript": "ENST00000617873.4",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "n.27T>C",
"hgvs_p": null,
"transcript": "ENST00000619272.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.-17T>C",
"hgvs_p": null,
"transcript": "ENST00000612731.2",
"protein_id": "ENSP00000485760.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6871",
"gene_hgnc_id": 49964,
"hgvs_c": "n.-198T>C",
"hgvs_p": null,
"transcript": "ENST00000613433.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 56,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6871",
"gene_hgnc_id": 49964,
"hgvs_c": "n.-198T>C",
"hgvs_p": null,
"transcript": "NR_106931.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 56,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6871",
"gene_hgnc_id": 49964,
"hgvs_c": "n.-203T>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_3448",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6871",
"gene_hgnc_id": 49964,
"hgvs_c": "n.-232T>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_3449",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"dbsnp": "rs753381",
"frequency_reference_population": 0.5833774,
"hom_count_reference_population": 281299,
"allele_count_reference_population": 939639,
"gnomad_exomes_af": 0.574347,
"gnomad_genomes_af": 0.669969,
"gnomad_exomes_ac": 837726,
"gnomad_genomes_ac": 101913,
"gnomad_exomes_homalt": 245131,
"gnomad_genomes_homalt": 36168,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000014687834664073307,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.0494,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.049,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000685551.1",
"gene_symbol": "PLCG1",
"hgnc_id": 9065,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2438T>C",
"hgvs_p": "p.Ile813Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_106931.1",
"gene_symbol": "MIR6871",
"hgnc_id": 49964,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-198T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}