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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: 20-8788453-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=8788453&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 8788453,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000338037.11",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3116T>C",
"hgvs_p": "p.Ile1039Thr",
"transcript": "NM_015192.4",
"protein_id": "NP_056007.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "ENST00000338037.11",
"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": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3116T>C",
"hgvs_p": "p.Ile1039Thr",
"transcript": "ENST00000338037.11",
"protein_id": "ENSP00000338185.6",
"transcript_support_level": 1,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "NM_015192.4",
"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": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3116T>C",
"hgvs_p": "p.Ile1039Thr",
"transcript": "ENST00000378637.6",
"protein_id": "ENSP00000367904.2",
"transcript_support_level": 1,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3119,
"cdna_end": null,
"cdna_length": 3864,
"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": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3116T>C",
"hgvs_p": "p.Ile1039Thr",
"transcript": "ENST00000378641.7",
"protein_id": "ENSP00000367908.3",
"transcript_support_level": 1,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3630,
"cdna_end": null,
"cdna_length": 7323,
"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": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "n.2336T>C",
"hgvs_p": null,
"transcript": "ENST00000487210.5",
"protein_id": "ENSP00000431704.1",
"transcript_support_level": 1,
"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": 4781,
"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": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.3116T>C",
"hgvs_p": "p.Ile1039Thr",
"transcript": "NM_182734.3",
"protein_id": "NP_877398.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 7206,
"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": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.2813T>C",
"hgvs_p": "p.Ile938Thr",
"transcript": "ENST00000637919.1",
"protein_id": "ENSP00000490862.1",
"transcript_support_level": 5,
"aa_start": 938,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 5074,
"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": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.2813T>C",
"hgvs_p": "p.Ile938Thr",
"transcript": "ENST00000626966.2",
"protein_id": "ENSP00000487075.1",
"transcript_support_level": 2,
"aa_start": 938,
"aa_end": null,
"aa_length": 960,
"cds_start": 2813,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 2996,
"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": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.2813T>C",
"hgvs_p": "p.Ile938Thr",
"transcript": "ENST00000625874.2",
"protein_id": "ENSP00000486301.1",
"transcript_support_level": 2,
"aa_start": 938,
"aa_end": null,
"aa_length": 959,
"cds_start": 2813,
"cds_end": null,
"cds_length": 2881,
"cdna_start": 3138,
"cdna_end": null,
"cdna_length": 3206,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000628239.2",
"protein_id": "ENSP00000487544.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 230,
"cds_start": 374,
"cds_end": null,
"cds_length": 693,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 830,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "n.2268T>C",
"hgvs_p": null,
"transcript": "ENST00000494924.2",
"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": 2338,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "n.3187T>C",
"hgvs_p": null,
"transcript": "ENST00000635830.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 3237,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "n.284T>C",
"hgvs_p": null,
"transcript": "ENST00000635929.1",
"protein_id": "ENSP00000490792.1",
"transcript_support_level": 5,
"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": 2291,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"hgvs_c": "n.2980T>C",
"hgvs_p": null,
"transcript": "ENST00000636825.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLCB1",
"gene_hgnc_id": 15917,
"dbsnp": "rs75820839",
"frequency_reference_population": 0.00049352954,
"hom_count_reference_population": 4,
"allele_count_reference_population": 796,
"gnomad_exomes_af": 0.000300578,
"gnomad_genomes_af": 0.00234326,
"gnomad_exomes_ac": 439,
"gnomad_genomes_ac": 357,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00948604941368103,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.3011,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.608,
"phylop100way_prediction": "Pathogenic",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000338037.11",
"gene_symbol": "PLCB1",
"hgnc_id": 15917,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3116T>C",
"hgvs_p": "p.Ile1039Thr"
}
],
"clinvar_disease": " 12,Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:2",
"phenotype_combined": "not provided|not specified|Developmental and epileptic encephalopathy, 12|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}