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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: 8-125032285-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=125032285&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "WASHC5",
"hgnc_id": 28984,
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Ala1097Ala",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_014846.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 86373,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "8",
"clinvar_classification": "Benign",
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 8,Ritscher-Schinzel syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.28999999165534973,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 3593,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3291,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_014846.4",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Ala1097Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318410.12",
"protein_coding": true,
"protein_id": "NP_055661.3",
"strand": false,
"transcript": "NM_014846.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 3593,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3291,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000318410.12",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Ala1097Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014846.4",
"protein_coding": true,
"protein_id": "ENSP00000318016.7",
"strand": false,
"transcript": "ENST00000318410.12",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "A",
"aa_start": 1113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4180,
"cdna_start": 3640,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3339,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000920325.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3339G>A",
"hgvs_p": "p.Ala1113Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590384.1",
"strand": false,
"transcript": "ENST00000920325.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 3653,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3291,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000890504.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Ala1097Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560563.1",
"strand": false,
"transcript": "ENST00000890504.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4525,
"cdna_start": 3979,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3291,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000890505.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Ala1097Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560564.1",
"strand": false,
"transcript": "ENST00000890505.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4204,
"cdna_start": 3664,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3291,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000920326.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Ala1097Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590385.1",
"strand": false,
"transcript": "ENST00000920326.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4570,
"cdna_start": 4031,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3291,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000965243.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Ala1097Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635302.1",
"strand": false,
"transcript": "ENST00000965243.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "A",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4114,
"cdna_start": 3571,
"cds_end": null,
"cds_length": 3459,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000965241.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3270G>A",
"hgvs_p": "p.Ala1090Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635300.1",
"strand": false,
"transcript": "ENST00000965241.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1122,
"aa_ref": "A",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 3428,
"cds_end": null,
"cds_length": 3369,
"cds_start": 3180,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000890507.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3180G>A",
"hgvs_p": "p.Ala1060Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560566.1",
"strand": false,
"transcript": "ENST00000890507.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "A",
"aa_start": 1045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": 3381,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3135,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000920328.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3135G>A",
"hgvs_p": "p.Ala1045Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590387.1",
"strand": false,
"transcript": "ENST00000920328.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1073,
"aa_ref": "A",
"aa_start": 1011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 3330,
"cds_end": null,
"cds_length": 3222,
"cds_start": 3033,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000890506.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3033G>A",
"hgvs_p": "p.Ala1011Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560565.1",
"strand": false,
"transcript": "ENST00000890506.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "A",
"aa_start": 1003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3814,
"cdna_start": 3268,
"cds_end": null,
"cds_length": 3198,
"cds_start": 3009,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000920327.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3009G>A",
"hgvs_p": "p.Ala1003Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590386.1",
"strand": false,
"transcript": "ENST00000920327.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "A",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 3202,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2991,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000920329.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.2991G>A",
"hgvs_p": "p.Ala997Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590388.1",
"strand": false,
"transcript": "ENST00000920329.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "A",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 3283,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2847,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001330609.2",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.2847G>A",
"hgvs_p": "p.Ala949Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317538.1",
"strand": false,
"transcript": "NM_001330609.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "A",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 3128,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2847,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000517845.5",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.2847G>A",
"hgvs_p": "p.Ala949Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429676.1",
"strand": false,
"transcript": "ENST00000517845.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "A",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 3087,
"cds_end": null,
"cds_length": 3009,
"cds_start": 2820,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000965242.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.2820G>A",
"hgvs_p": "p.Ala940Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635301.1",
"strand": false,
"transcript": "ENST00000965242.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4534,
"cdna_start": 3988,
"cds_end": null,
"cds_length": 3480,
"cds_start": 3291,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047422502.1",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Ala1097Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278458.1",
"strand": false,
"transcript": "XM_047422502.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 976,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000519042.2",
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"hgvs_c": "n.430G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000519042.2",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs11542889",
"effect": "synonymous_variant",
"frequency_reference_population": 0.053519048,
"gene_hgnc_id": 28984,
"gene_symbol": "WASHC5",
"gnomad_exomes_ac": 65864,
"gnomad_exomes_af": 0.0450571,
"gnomad_exomes_homalt": 3820,
"gnomad_genomes_ac": 20509,
"gnomad_genomes_af": 0.134851,
"gnomad_genomes_homalt": 3087,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 6907,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Ritscher-Schinzel syndrome;Hereditary spastic paraplegia 8|Hereditary spastic paraplegia 8|Hereditary spastic paraplegia|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.707,
"pos": 125032285,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014846.4"
}
]
}