← Back to variant description
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: X-153867795-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153867795&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153867795,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000370060.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.1939+5G>A",
"hgvs_p": null,
"transcript": "NM_001278116.2",
"protein_id": "NP_001265045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": "ENST00000370060.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.1939+5G>A",
"hgvs_p": null,
"transcript": "ENST00000370060.7",
"protein_id": "ENSP00000359077.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": "NM_001278116.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.1939+5G>A",
"hgvs_p": null,
"transcript": "ENST00000361699.8",
"protein_id": "ENSP00000355380.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.1924+5G>A",
"hgvs_p": null,
"transcript": "ENST00000361981.7",
"protein_id": "ENSP00000354712.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1248,
"cds_start": -4,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.1939+5G>A",
"hgvs_p": null,
"transcript": "NM_000425.5",
"protein_id": "NP_000416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.1939+5G>A",
"hgvs_p": null,
"transcript": "NM_024003.3",
"protein_id": "NP_076493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.1924+5G>A",
"hgvs_p": null,
"transcript": "NM_001143963.2",
"protein_id": "NP_001137435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1248,
"cds_start": -4,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.1924+5G>A",
"hgvs_p": null,
"transcript": "ENST00000370055.5",
"protein_id": "ENSP00000359072.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1248,
"cds_start": -4,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.199+203G>A",
"hgvs_p": null,
"transcript": "ENST00000455590.1",
"protein_id": "ENSP00000397792.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "n.558+5G>A",
"hgvs_p": null,
"transcript": "ENST00000496122.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"dbsnp": "rs879253716",
"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": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9879999756813049,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.065,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.92,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999987981819827,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000370060.7",
"gene_symbol": "L1CAM",
"hgnc_id": 6470,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1939+5G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Spastic paraplegia,X-linked hydrocephalus syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Spastic paraplegia|X-linked hydrocephalus syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}