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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-150987840-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150987840&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HMGB3",
"hgnc_id": 5004,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Trp",
"inheritance_mode": "XL,Unknown",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001440773.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.4495,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"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": 0.22943973541259766,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 576,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_005342.4",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325307.12",
"protein_coding": true,
"protein_id": "NP_005333.2",
"strand": true,
"transcript": "NM_005342.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 576,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000325307.12",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005342.4",
"protein_coding": true,
"protein_id": "ENSP00000359393.3",
"strand": true,
"transcript": "ENST00000325307.12",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 812,
"cdna_start": 720,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000448905.6",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442758.1",
"strand": true,
"transcript": "ENST00000448905.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 192,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 793,
"cdna_start": 741,
"cds_end": null,
"cds_length": 581,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000455596.5",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405601.1",
"strand": true,
"transcript": "ENST00000455596.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 222,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 769,
"cds_end": null,
"cds_length": 669,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440773.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427702.1",
"strand": true,
"transcript": "NM_001440773.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": 672,
"cds_end": null,
"cds_length": 663,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001301231.2",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Arg197Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288160.1",
"strand": true,
"transcript": "NM_001301231.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 791,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001301228.2",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288157.1",
"strand": true,
"transcript": "NM_001301228.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 572,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001301229.2",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288158.1",
"strand": true,
"transcript": "NM_001301229.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 905,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440774.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427703.1",
"strand": true,
"transcript": "NM_001440774.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 621,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854897.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524956.1",
"strand": true,
"transcript": "ENST00000854897.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3577,
"cdna_start": 654,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854898.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524957.1",
"strand": true,
"transcript": "ENST00000854898.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3752,
"cdna_start": 817,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854899.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524958.1",
"strand": true,
"transcript": "ENST00000854899.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": 667,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854900.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524959.1",
"strand": true,
"transcript": "ENST00000854900.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 661,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854901.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524960.1",
"strand": true,
"transcript": "ENST00000854901.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 779,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854902.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524961.1",
"strand": true,
"transcript": "ENST00000854902.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 739,
"cdna_start": 647,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918047.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588106.1",
"strand": true,
"transcript": "ENST00000918047.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 871,
"cdna_start": 779,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918048.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588107.1",
"strand": true,
"transcript": "ENST00000918048.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1599,
"cdna_start": 670,
"cds_end": null,
"cds_length": 603,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918049.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588108.1",
"strand": true,
"transcript": "ENST00000918049.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 187,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 707,
"cdna_start": 670,
"cds_end": null,
"cds_length": 566,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000419110.5",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410354.1",
"strand": true,
"transcript": "ENST00000419110.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 157,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": null,
"cds_end": null,
"cds_length": 474,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918046.1",
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"hgvs_c": "c.466-66C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588105.1",
"strand": true,
"transcript": "ENST00000918046.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs372194723",
"effect": "missense_variant",
"frequency_reference_population": 0.000010002743,
"gene_hgnc_id": 5004,
"gene_symbol": "HMGB3",
"gnomad_exomes_ac": 9,
"gnomad_exomes_af": 0.00000825572,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000273928,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 4,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.527,
"pos": 150987840,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.299,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001440773.1"
}
]
}