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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: 6-53522444-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=53522444&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 53522444,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000650454.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.234G>T",
"hgvs_p": "p.Leu78Leu",
"transcript": "NM_001498.4",
"protein_id": "NP_001489.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 637,
"cds_start": 234,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": "ENST00000650454.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.234G>T",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000650454.1",
"protein_id": "ENSP00000497574.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 637,
"cds_start": 234,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": "NM_001498.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.75G>T",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000616923.5",
"protein_id": "ENSP00000482756.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 584,
"cds_start": 75,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.234G>T",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000514004.5",
"protein_id": "ENSP00000421908.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 252,
"cds_start": 234,
"cds_end": null,
"cds_length": 759,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.222G>T",
"hgvs_p": "p.Leu74Leu",
"transcript": "ENST00000643939.1",
"protein_id": "ENSP00000495686.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 639,
"cds_start": 222,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.234G>T",
"hgvs_p": "p.Leu78Leu",
"transcript": "NM_001197115.2",
"protein_id": "NP_001184044.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 599,
"cds_start": 234,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.234G>T",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000513939.6",
"protein_id": "ENSP00000424211.2",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 599,
"cds_start": 234,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "n.336G>T",
"hgvs_p": null,
"transcript": "ENST00000505294.5",
"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": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "n.165G>T",
"hgvs_p": null,
"transcript": "ENST00000514933.2",
"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": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "n.151-7912G>T",
"hgvs_p": null,
"transcript": "ENST00000504525.1",
"protein_id": "ENSP00000421228.1",
"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": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCLC-AS1",
"gene_hgnc_id": 56649,
"hgvs_c": "n.275-3C>A",
"hgvs_p": null,
"transcript": "ENST00000789581.1",
"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": 389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"hgvs_c": "c.*21G>T",
"hgvs_p": null,
"transcript": "ENST00000505197.1",
"protein_id": "ENSP00000427403.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 17,
"cds_start": -4,
"cds_end": null,
"cds_length": 54,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GCLC",
"gene_hgnc_id": 4311,
"dbsnp": "rs2066508",
"frequency_reference_population": 0.034313068,
"hom_count_reference_population": 1111,
"allele_count_reference_population": 55217,
"gnomad_exomes_af": 0.0349613,
"gnomad_genomes_af": 0.028114,
"gnomad_exomes_ac": 50934,
"gnomad_genomes_ac": 4283,
"gnomad_exomes_homalt": 1023,
"gnomad_genomes_homalt": 88,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3700000047683716,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.37,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.578,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000650454.1",
"gene_symbol": "GCLC",
"hgnc_id": 4311,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.234G>T",
"hgvs_p": "p.Leu78Leu"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000789581.1",
"gene_symbol": "GCLC-AS1",
"hgnc_id": 56649,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.275-3C>A",
"hgvs_p": null
}
],
"clinvar_disease": "GCLC-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|GCLC-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}