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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-133596485-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=133596485&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPC3",
"hgnc_id": 4451,
"hgvs_c": "c.1597G>A",
"hgvs_p": "p.Gly533Ser",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001164617.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2744,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Wilms tumor 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4971972703933716,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "G",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004484.4",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1528G>A",
"hgvs_p": "p.Gly510Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370818.8",
"protein_coding": true,
"protein_id": "NP_004475.1",
"strand": false,
"transcript": "NM_004484.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "G",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000370818.8",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1528G>A",
"hgvs_p": "p.Gly510Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004484.4",
"protein_coding": true,
"protein_id": "ENSP00000359854.3",
"strand": false,
"transcript": "ENST00000370818.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 603,
"aa_ref": "G",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000394299.7",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1597G>A",
"hgvs_p": "p.Gly533Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377836.2",
"strand": false,
"transcript": "ENST00000394299.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 526,
"aa_ref": "G",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1366,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000631057.2",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Gly456Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486325.1",
"strand": false,
"transcript": "ENST00000631057.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 616,
"aa_ref": "G",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1636,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911059.1",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Gly546Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581118.1",
"strand": false,
"transcript": "ENST00000911059.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 603,
"aa_ref": "G",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001164617.2",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1597G>A",
"hgvs_p": "p.Gly533Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158089.1",
"strand": false,
"transcript": "NM_001164617.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 564,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1480,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001164618.2",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1480G>A",
"hgvs_p": "p.Gly494Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158090.1",
"strand": false,
"transcript": "NM_001164618.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 564,
"aa_ref": "G",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1480,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000689310.1",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1480G>A",
"hgvs_p": "p.Gly494Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510438.1",
"strand": false,
"transcript": "ENST00000689310.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 538,
"aa_ref": "G",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1402,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925127.1",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Gly468Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595186.1",
"strand": false,
"transcript": "ENST00000925127.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 526,
"aa_ref": "G",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1366,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001164619.2",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Gly456Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158091.1",
"strand": false,
"transcript": "NM_001164619.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925126.1",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Gly383Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595185.1",
"strand": false,
"transcript": "ENST00000925126.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 342,
"aa_ref": "G",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 815,
"cds_end": null,
"cds_length": 1029,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000692084.1",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Gly272Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508554.1",
"strand": false,
"transcript": "ENST00000692084.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 309,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 932,
"cdna_start": 717,
"cds_end": null,
"cds_length": 930,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000406757.3",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Gly239Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385307.3",
"strand": false,
"transcript": "ENST00000406757.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 596,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000666017.1",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "n.406G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000666017.1",
"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": 761,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000666673.2",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "n.559G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000666673.2",
"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": 785,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000667662.1",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "n.595G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000667662.1",
"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": 1188,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000669691.1",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "n.594G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000669691.1",
"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": 674,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000692074.1",
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"hgvs_c": "n.472G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000692074.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1556159260",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4451,
"gene_symbol": "GPC3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided|Wilms tumor 1",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.491,
"pos": 133596485,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.612,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001164617.2"
}
]
}