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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-134566541-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=134566541&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": "PLAC1",
"hgnc_id": 9044,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_021796.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2729,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.46609559655189514,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 416,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_021796.4",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359237.9",
"protein_coding": true,
"protein_id": "NP_068568.1",
"strand": false,
"transcript": "NM_021796.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 416,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000359237.9",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021796.4",
"protein_coding": true,
"protein_id": "ENSP00000352173.4",
"strand": false,
"transcript": "ENST00000359237.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": 446,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001316887.2",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303816.1",
"strand": false,
"transcript": "NM_001316887.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1177,
"cdna_start": 474,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001316888.2",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303817.1",
"strand": false,
"transcript": "NM_001316888.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1047,
"cdna_start": 344,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001316889.2",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303818.1",
"strand": false,
"transcript": "NM_001316889.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1110,
"cdna_start": 412,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000878501.1",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548560.1",
"strand": false,
"transcript": "ENST00000878501.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1025,
"cdna_start": 322,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917137.1",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587196.1",
"strand": false,
"transcript": "ENST00000917137.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 472,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000917138.1",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587197.1",
"strand": false,
"transcript": "ENST00000917138.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1056,
"cdna_start": 353,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917139.1",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587198.1",
"strand": false,
"transcript": "ENST00000917139.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1075,
"cdna_start": 378,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950374.1",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620433.1",
"strand": false,
"transcript": "ENST00000950374.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1064,
"cdna_start": 361,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011531257.3",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529559.1",
"strand": false,
"transcript": "XM_011531257.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1163,
"cdna_start": 460,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011531260.3",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529562.1",
"strand": false,
"transcript": "XM_011531260.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 212,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 992,
"cdna_start": 289,
"cds_end": null,
"cds_length": 639,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047441789.1",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297745.1",
"strand": false,
"transcript": "XM_047441789.1",
"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": 333,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000473897.1",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "n.302G>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": "ENST00000473897.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1138,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000476971.5",
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"hgvs_c": "n.474G>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": "ENST00000476971.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1185530130",
"effect": "missense_variant",
"frequency_reference_population": 9.1065806e-7,
"gene_hgnc_id": 9044,
"gene_symbol": "PLAC1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 9.10658e-7,
"gnomad_exomes_homalt": 0,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.98,
"pos": 134566541,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.369,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_021796.4"
}
]
}