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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: 8-125057660-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=125057660&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 125057660,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000318410.12",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1771T>C",
"hgvs_p": "p.Ser591Pro",
"transcript": "NM_014846.4",
"protein_id": "NP_055661.3",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1771,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": "ENST00000318410.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1771T>C",
"hgvs_p": "p.Ser591Pro",
"transcript": "ENST00000318410.12",
"protein_id": "ENSP00000318016.7",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1771,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": "NM_014846.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1327T>C",
"hgvs_p": "p.Ser443Pro",
"transcript": "NM_001330609.2",
"protein_id": "NP_001317538.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1011,
"cds_start": 1327,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1327T>C",
"hgvs_p": "p.Ser443Pro",
"transcript": "ENST00000517845.5",
"protein_id": "ENSP00000429676.1",
"transcript_support_level": 2,
"aa_start": 443,
"aa_end": null,
"aa_length": 1011,
"cds_start": 1327,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1771T>C",
"hgvs_p": "p.Ser591Pro",
"transcript": "XM_047422502.1",
"protein_id": "XP_047278458.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1771,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1771T>C",
"hgvs_p": "p.Ser591Pro",
"transcript": "XM_011517409.2",
"protein_id": "XP_011515711.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1095,
"cds_start": 1771,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 4342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"hgvs_c": "c.1771T>C",
"hgvs_p": "p.Ser591Pro",
"transcript": "XM_047422503.1",
"protein_id": "XP_047278459.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 1095,
"cds_start": 1771,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 4737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WASHC5",
"gene_hgnc_id": 28984,
"dbsnp": "rs1554593901",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9656859636306763,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.98,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9908,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.321,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000318410.12",
"gene_symbol": "WASHC5",
"hgnc_id": 28984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1771T>C",
"hgvs_p": "p.Ser591Pro"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 8,Ritscher-Schinzel syndrome,Ritscher-Schinzel syndrome 1",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8|Hereditary spastic paraplegia 8|Ritscher-Schinzel syndrome 1",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}