← 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-153743667-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153743667&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCD1",
"hgnc_id": 61,
"hgvs_c": "c.2470G>A",
"hgvs_p": "p.Val824Met",
"inheritance_mode": "XL,AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001440747.1",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PLXNB3-AS1",
"hgnc_id": 40454,
"hgvs_c": "n.72-5089C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000434284.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 6,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1329,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1046857237815857,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 745,
"aa_ref": "V",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 2581,
"cds_end": null,
"cds_length": 2238,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000033.4",
"gene_hgnc_id": 61,
"gene_symbol": "ABCD1",
"hgvs_c": "c.2170G>A",
"hgvs_p": "p.Val724Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000218104.6",
"protein_coding": true,
"protein_id": "NP_000024.2",
"strand": true,
"transcript": "NM_000033.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 745,
"aa_ref": "V",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 2581,
"cds_end": null,
"cds_length": 2238,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000218104.6",
"gene_hgnc_id": 61,
"gene_symbol": "ABCD1",
"hgvs_c": "c.2170G>A",
"hgvs_p": "p.Val724Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000033.4",
"protein_coding": true,
"protein_id": "ENSP00000218104.3",
"strand": true,
"transcript": "ENST00000218104.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 845,
"aa_ref": "V",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2470,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001440747.1",
"gene_hgnc_id": 61,
"gene_symbol": "ABCD1",
"hgvs_c": "c.2470G>A",
"hgvs_p": "p.Val824Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427676.1",
"strand": true,
"transcript": "NM_001440747.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 845,
"aa_ref": "V",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2470,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000862307.1",
"gene_hgnc_id": 61,
"gene_symbol": "ABCD1",
"hgvs_c": "c.2470G>A",
"hgvs_p": "p.Val824Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532366.1",
"strand": true,
"transcript": "ENST00000862307.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 835,
"aa_ref": "V",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3939,
"cdna_start": 2851,
"cds_end": null,
"cds_length": 2508,
"cds_start": 2440,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000862306.1",
"gene_hgnc_id": 61,
"gene_symbol": "ABCD1",
"hgvs_c": "c.2440G>A",
"hgvs_p": "p.Val814Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532365.1",
"strand": true,
"transcript": "ENST00000862306.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 776,
"aa_ref": "V",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4111,
"cdna_start": 3035,
"cds_end": null,
"cds_length": 2331,
"cds_start": 2263,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000935199.1",
"gene_hgnc_id": 61,
"gene_symbol": "ABCD1",
"hgvs_c": "c.2263G>A",
"hgvs_p": "p.Val755Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605258.1",
"strand": true,
"transcript": "ENST00000935199.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 743,
"aa_ref": "V",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 2580,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2164,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000968902.1",
"gene_hgnc_id": 61,
"gene_symbol": "ABCD1",
"hgvs_c": "c.2164G>A",
"hgvs_p": "p.Val722Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638961.1",
"strand": true,
"transcript": "ENST00000968902.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434284.1",
"gene_hgnc_id": 40454,
"gene_symbol": "PLXNB3-AS1",
"hgvs_c": "n.72-5089C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000434284.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_199693.1",
"gene_hgnc_id": 40454,
"gene_symbol": "PLXNB3-AS1",
"hgvs_c": "n.90-5089C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_199693.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_199694.1",
"gene_hgnc_id": 40454,
"gene_symbol": "PLXNB3-AS1",
"hgvs_c": "n.198-5089C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_199694.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4035,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_199695.1",
"gene_hgnc_id": 40454,
"gene_symbol": "PLXNB3-AS1",
"hgvs_c": "n.309-5089C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_199695.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_199696.1",
"gene_hgnc_id": 40454,
"gene_symbol": "PLXNB3-AS1",
"hgvs_c": "n.230-5089C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_199696.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs782212963",
"effect": "missense_variant",
"frequency_reference_population": 0.000005108931,
"gene_hgnc_id": 61,
"gene_symbol": "ABCD1",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000376538,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000178406,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.159,
"pos": 153743667,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.205,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001440747.1"
}
]
}