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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: 20-41162714-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=41162714&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 41162714,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002660.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "NM_002660.3",
"protein_id": "NP_002651.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1291,
"cds_start": 670,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000685551.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002660.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "ENST00000685551.1",
"protein_id": "ENSP00000508698.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1291,
"cds_start": 670,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002660.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685551.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "ENST00000373271.5",
"protein_id": "ENSP00000362368.1",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 1290,
"cds_start": 670,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373271.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "ENST00000244007.7",
"protein_id": "ENSP00000244007.3",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 1291,
"cds_start": 670,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244007.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "NM_182811.2",
"protein_id": "NP_877963.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1290,
"cds_start": 670,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182811.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "ENST00000896054.1",
"protein_id": "ENSP00000566113.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1290,
"cds_start": 670,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896054.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "ENST00000896055.1",
"protein_id": "ENSP00000566114.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1282,
"cds_start": 670,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896055.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "ENST00000930632.1",
"protein_id": "ENSP00000600691.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1258,
"cds_start": 670,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930632.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "ENST00000896056.1",
"protein_id": "ENSP00000566115.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1255,
"cds_start": 670,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896056.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "XM_005260438.3",
"protein_id": "XP_005260495.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1330,
"cds_start": 670,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260438.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "XM_047440207.1",
"protein_id": "XP_047296163.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 959,
"cds_start": 670,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440207.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "XM_011528867.3",
"protein_id": "XP_011527169.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 906,
"cds_start": 670,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528867.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr",
"transcript": "XM_047440208.1",
"protein_id": "XP_047296164.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 906,
"cds_start": 670,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440208.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "n.-248G>A",
"hgvs_p": null,
"transcript": "ENST00000492148.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492148.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"hgvs_c": "n.*67G>A",
"hgvs_p": null,
"transcript": "ENST00000483646.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483646.2"
}
],
"gene_symbol": "PLCG1",
"gene_hgnc_id": 9065,
"dbsnp": "rs772495264",
"frequency_reference_population": 0.0000043415107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410901,
"gnomad_genomes_af": 0.00000657307,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4971277415752411,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.1752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.376,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002660.3",
"gene_symbol": "PLCG1",
"hgnc_id": 9065,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Ala224Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}