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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: X-153864014-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153864014&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153864014,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000370060.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.3326G>C",
"hgvs_p": "p.Arg1109Pro",
"transcript": "NM_001278116.2",
"protein_id": "NP_001265045.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3326,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 3543,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": "ENST00000370060.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.3326G>C",
"hgvs_p": "p.Arg1109Pro",
"transcript": "ENST00000370060.7",
"protein_id": "ENSP00000359077.1",
"transcript_support_level": 5,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3326,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 3543,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": "NM_001278116.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.3326G>C",
"hgvs_p": "p.Arg1109Pro",
"transcript": "ENST00000361699.8",
"protein_id": "ENSP00000355380.4",
"transcript_support_level": 1,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3326,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3337,
"cdna_end": null,
"cdna_length": 3888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.3311G>C",
"hgvs_p": "p.Arg1104Pro",
"transcript": "ENST00000361981.7",
"protein_id": "ENSP00000354712.3",
"transcript_support_level": 1,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3419,
"cdna_end": null,
"cdna_length": 5004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.3326G>C",
"hgvs_p": "p.Arg1109Pro",
"transcript": "NM_000425.5",
"protein_id": "NP_000416.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3326,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 3504,
"cdna_end": null,
"cdna_length": 5099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.3326G>C",
"hgvs_p": "p.Arg1109Pro",
"transcript": "NM_024003.3",
"protein_id": "NP_076493.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3326,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3434,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.3311G>C",
"hgvs_p": "p.Arg1104Pro",
"transcript": "NM_001143963.2",
"protein_id": "NP_001137435.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3419,
"cdna_end": null,
"cdna_length": 5004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.3311G>C",
"hgvs_p": "p.Arg1104Pro",
"transcript": "ENST00000370055.5",
"protein_id": "ENSP00000359072.1",
"transcript_support_level": 5,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3509,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "c.157+308G>C",
"hgvs_p": null,
"transcript": "ENST00000370058.7",
"protein_id": "ENSP00000359075.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"hgvs_c": "n.-45G>C",
"hgvs_p": null,
"transcript": "ENST00000491983.1",
"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": 608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "L1CAM",
"gene_hgnc_id": 6470,
"dbsnp": "rs782420127",
"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": 0.07872232794761658,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.4233,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.228,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000370060.7",
"gene_symbol": "L1CAM",
"hgnc_id": 6470,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.3326G>C",
"hgvs_p": "p.Arg1109Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}