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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-153725307-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153725307&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153725307,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001440747.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Thr14Arg",
"transcript": "NM_000033.4",
"protein_id": "NP_000024.2",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 745,
"cds_start": 41,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000218104.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000033.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Thr14Arg",
"transcript": "ENST00000218104.6",
"protein_id": "ENSP00000218104.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 745,
"cds_start": 41,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000033.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218104.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Thr14Arg",
"transcript": "NM_001440747.1",
"protein_id": "NP_001427676.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 845,
"cds_start": 41,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440747.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Thr14Arg",
"transcript": "ENST00000862307.1",
"protein_id": "ENSP00000532366.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 845,
"cds_start": 41,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862307.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Thr14Arg",
"transcript": "ENST00000862306.1",
"protein_id": "ENSP00000532365.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 835,
"cds_start": 41,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862306.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Thr14Arg",
"transcript": "ENST00000935199.1",
"protein_id": "ENSP00000605258.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 776,
"cds_start": 41,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935199.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Thr14Arg",
"transcript": "ENST00000968902.1",
"protein_id": "ENSP00000638961.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 743,
"cds_start": 41,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968902.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Thr14Arg",
"transcript": "XM_047441917.1",
"protein_id": "XP_047297873.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 575,
"cds_start": 41,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441917.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCAP31",
"gene_hgnc_id": 16695,
"hgvs_c": "c.-45+419G>C",
"hgvs_p": null,
"transcript": "ENST00000862067.1",
"protein_id": "ENSP00000532126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": null,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862067.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCAP31",
"gene_hgnc_id": 16695,
"hgvs_c": "c.-45+419G>C",
"hgvs_p": null,
"transcript": "ENST00000968754.1",
"protein_id": "ENSP00000638813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968754.1"
}
],
"gene_symbol": "ABCD1",
"gene_hgnc_id": 61,
"dbsnp": "rs782161942",
"frequency_reference_population": 0.00061930885,
"hom_count_reference_population": 201,
"allele_count_reference_population": 711,
"gnomad_exomes_af": 0.000638673,
"gnomad_genomes_af": 0.000442102,
"gnomad_exomes_ac": 661,
"gnomad_genomes_ac": 50,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.019428253173828125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.086,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.462,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001440747.1",
"gene_symbol": "ABCD1",
"hgnc_id": 61,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Thr14Arg"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000862067.1",
"gene_symbol": "BCAP31",
"hgnc_id": 16695,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.-45+419G>C",
"hgvs_p": null
}
],
"clinvar_disease": "ABCD1-related disorder,Adrenoleukodystrophy,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:3 B:1",
"phenotype_combined": "Adrenoleukodystrophy|not provided|Inborn genetic diseases|ABCD1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}