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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: 4-6008486-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=6008486&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 6008486,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001364689.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "NM_001364689.3",
"protein_id": "NP_001351618.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1508,
"cds_start": 473,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000711657.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364689.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "ENST00000711657.1",
"protein_id": "ENSP00000518823.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1508,
"cds_start": 473,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001364689.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711657.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "ENST00000531445.3",
"protein_id": "ENSP00000437121.2",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 1508,
"cds_start": 473,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531445.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "XM_047415663.1",
"protein_id": "XP_047271619.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1508,
"cds_start": 473,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415663.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "XM_047415664.1",
"protein_id": "XP_047271620.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1508,
"cds_start": 473,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415664.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "XM_047415666.1",
"protein_id": "XP_047271622.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1395,
"cds_start": 473,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.426+3344G>A",
"hgvs_p": null,
"transcript": "NM_001364690.2",
"protein_id": "NP_001351619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1329,
"cds_start": null,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364690.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.426+3344G>A",
"hgvs_p": null,
"transcript": "XM_047415667.1",
"protein_id": "XP_047271623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1329,
"cds_start": null,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.426+3344G>A",
"hgvs_p": null,
"transcript": "XM_017008893.2",
"protein_id": "XP_016864382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1274,
"cds_start": null,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008893.2"
}
],
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"dbsnp": "rs548929659",
"frequency_reference_population": 0.010678079,
"hom_count_reference_population": 37,
"allele_count_reference_population": 4249,
"gnomad_exomes_af": 0.0115395,
"gnomad_genomes_af": 0.00928664,
"gnomad_exomes_ac": 2836,
"gnomad_genomes_ac": 1413,
"gnomad_exomes_homalt": 29,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006179481744766235,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.113,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.399,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001364689.3",
"gene_symbol": "C4orf50",
"hgnc_id": 33766,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}