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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-72134530-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72134530&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 72134530,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001438805.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Glu196Lys",
"transcript": "NM_001013627.3",
"protein_id": "NP_001013649.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 1225,
"cds_start": 586,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000633930.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013627.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Glu196Lys",
"transcript": "ENST00000633930.2",
"protein_id": "ENSP00000488668.1",
"transcript_support_level": 5,
"aa_start": 196,
"aa_end": null,
"aa_length": 1225,
"cds_start": 586,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001013627.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633930.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.-381G>A",
"hgvs_p": null,
"transcript": "ENST00000510661.2",
"protein_id": "ENSP00000424079.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 709,
"cds_start": null,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510661.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "n.882G>A",
"hgvs_p": null,
"transcript": "ENST00000373677.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000373677.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "NM_001438805.1",
"protein_id": "NP_001425734.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1248,
"cds_start": 655,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438805.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Glu167Lys",
"transcript": "NM_001438806.1",
"protein_id": "NP_001425735.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1196,
"cds_start": 499,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438806.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Glu9Lys",
"transcript": "NM_001438808.1",
"protein_id": "NP_001425737.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1038,
"cds_start": 25,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438808.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "XM_047442065.1",
"protein_id": "XP_047298021.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1204,
"cds_start": 655,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442065.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Glu125Lys",
"transcript": "XM_047442067.1",
"protein_id": "XP_047298023.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 1154,
"cds_start": 373,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442067.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Glu167Lys",
"transcript": "XM_047442068.1",
"protein_id": "XP_047298024.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1152,
"cds_start": 499,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442068.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Glu73Lys",
"transcript": "XM_047442069.1",
"protein_id": "XP_047298025.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 1102,
"cds_start": 217,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442069.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "XM_011530932.2",
"protein_id": "XP_011529234.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1098,
"cds_start": 655,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530932.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys",
"transcript": "XM_011530933.2",
"protein_id": "XP_011529235.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1054,
"cds_start": 655,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530933.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.350-3911G>A",
"hgvs_p": null,
"transcript": "NM_001438807.1",
"protein_id": "NP_001425736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1044,
"cds_start": null,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438807.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.68-3911G>A",
"hgvs_p": null,
"transcript": "NM_001438809.1",
"protein_id": "NP_001425738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438809.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.68-3911G>A",
"hgvs_p": null,
"transcript": "ENST00000631375.1",
"protein_id": "ENSP00000488715.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000631375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"hgvs_c": "c.44-3911G>A",
"hgvs_p": null,
"transcript": "ENST00000632230.1",
"protein_id": "ENSP00000487835.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": null,
"cds_end": null,
"cds_length": 2507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000632230.1"
}
],
"gene_symbol": "NHSL2",
"gene_hgnc_id": 33737,
"dbsnp": "rs72630038",
"frequency_reference_population": 0.0049490724,
"hom_count_reference_population": 2202,
"allele_count_reference_population": 5770,
"gnomad_exomes_af": 0.0048973,
"gnomad_genomes_af": 0.00543127,
"gnomad_exomes_ac": 5156,
"gnomad_genomes_ac": 614,
"gnomad_exomes_homalt": 232,
"gnomad_genomes_homalt": 30,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001516491174697876,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.1171,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.449,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001438805.1",
"gene_symbol": "NHSL2",
"hgnc_id": 33737,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Glu219Lys"
}
],
"clinvar_disease": " X-linked,Spinocerebellar ataxia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spinocerebellar ataxia, X-linked",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}