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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-118566065-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=118566065&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 118566065,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_144658.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Leu252Leu",
"transcript": "NM_144658.4",
"protein_id": "NP_653259.3",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 2073,
"cds_start": 754,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276202.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144658.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Leu252Leu",
"transcript": "ENST00000276202.9",
"protein_id": "ENSP00000276202.7",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 2073,
"cds_start": 754,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144658.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276202.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Leu252Leu",
"transcript": "ENST00000276204.10",
"protein_id": "ENSP00000276204.6",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 2077,
"cds_start": 754,
"cds_end": null,
"cds_length": 6234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276204.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Leu252Leu",
"transcript": "ENST00000966546.1",
"protein_id": "ENSP00000636605.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 2052,
"cds_start": 754,
"cds_end": null,
"cds_length": 6159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966546.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Leu252Leu",
"transcript": "ENST00000924404.1",
"protein_id": "ENSP00000594463.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 1996,
"cds_start": 754,
"cds_end": null,
"cds_length": 5991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924404.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Leu68Leu",
"transcript": "ENST00000633080.1",
"protein_id": "ENSP00000487829.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 1902,
"cds_start": 202,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633080.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Leu252Leu",
"transcript": "XM_005262368.5",
"protein_id": "XP_005262425.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 2086,
"cds_start": 754,
"cds_end": null,
"cds_length": 6261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262368.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Leu228Leu",
"transcript": "XM_011531276.4",
"protein_id": "XP_011529578.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 2062,
"cds_start": 682,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531276.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"hgvs_c": "c.661C>T",
"hgvs_p": "p.Leu221Leu",
"transcript": "XM_005262369.6",
"protein_id": "XP_005262426.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 2055,
"cds_start": 661,
"cds_end": null,
"cds_length": 6168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262369.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"hgvs_c": "c.661C>T",
"hgvs_p": "p.Leu221Leu",
"transcript": "XM_047441841.1",
"protein_id": "XP_047297797.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 2042,
"cds_start": 661,
"cds_end": null,
"cds_length": 6129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441841.1"
}
],
"gene_symbol": "DOCK11",
"gene_hgnc_id": 23483,
"dbsnp": "rs141632093",
"frequency_reference_population": 0.00078764523,
"hom_count_reference_population": 248,
"allele_count_reference_population": 952,
"gnomad_exomes_af": 0.000424025,
"gnomad_genomes_af": 0.00434693,
"gnomad_exomes_ac": 465,
"gnomad_genomes_ac": 487,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.587,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_144658.4",
"gene_symbol": "DOCK11",
"hgnc_id": 23483,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Leu252Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}