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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: 19-7519685-CC-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7519685&ref=CC&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF358",
"hgnc_id": 16838,
"hgvs_c": "c.443_444delCCinsTA",
"hgvs_p": "p.Pro148Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_018083.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000305089",
"hgnc_id": null,
"hgvs_c": "n.478+3156_478+3157delGGinsTA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000808452.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105372261",
"hgnc_id": null,
"hgvs_c": "n.936+3156_936+3157delGGinsTA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "XR_936294.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000267952",
"hgnc_id": null,
"hgvs_c": "c.*397_*398delCCinsTA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000599312.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000269371",
"hgnc_id": null,
"hgvs_c": "n.*230_*231delGGinsTA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000602083.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1707,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018083.5",
"gene_hgnc_id": 16838,
"gene_symbol": "ZNF358",
"hgvs_c": "c.443_444delCCinsTA",
"hgvs_p": "p.Pro148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000597229.2",
"protein_coding": true,
"protein_id": "NP_060553.4",
"strand": true,
"transcript": "NM_018083.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1707,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597229.2",
"gene_hgnc_id": 16838,
"gene_symbol": "ZNF358",
"hgvs_c": "c.443_444delCCinsTA",
"hgvs_p": "p.Pro148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018083.5",
"protein_coding": true,
"protein_id": "ENSP00000472305.1",
"strand": true,
"transcript": "ENST00000597229.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 531,
"cds_end": null,
"cds_length": 1707,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908207.1",
"gene_hgnc_id": 16838,
"gene_symbol": "ZNF358",
"hgvs_c": "c.443_444delCCinsTA",
"hgvs_p": "p.Pro148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578266.1",
"strand": true,
"transcript": "ENST00000908207.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2483,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1707,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950345.1",
"gene_hgnc_id": 16838,
"gene_symbol": "ZNF358",
"hgvs_c": "c.443_444delCCinsTA",
"hgvs_p": "p.Pro148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620404.1",
"strand": true,
"transcript": "ENST00000950345.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 2845,
"cds_end": null,
"cds_length": 1707,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950346.1",
"gene_hgnc_id": 16838,
"gene_symbol": "ZNF358",
"hgvs_c": "c.443_444delCCinsTA",
"hgvs_p": "p.Pro148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620405.1",
"strand": true,
"transcript": "ENST00000950346.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 168,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 662,
"cdna_start": 596,
"cds_end": null,
"cds_length": 509,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000596712.1",
"gene_hgnc_id": 16838,
"gene_symbol": "ZNF358",
"hgvs_c": "c.443_444delCCinsTA",
"hgvs_p": "p.Pro148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472777.1",
"strand": true,
"transcript": "ENST00000596712.1",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 587,
"aa_ref": "P",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1764,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438181.1",
"gene_hgnc_id": 16838,
"gene_symbol": "ZNF358",
"hgvs_c": "c.500_501delCCinsTA",
"hgvs_p": "p.Pro167Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294137.1",
"strand": true,
"transcript": "XM_047438181.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1707,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005272460.4",
"gene_hgnc_id": 16838,
"gene_symbol": "ZNF358",
"hgvs_c": "c.443_444delCCinsTA",
"hgvs_p": "p.Pro148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272517.1",
"strand": true,
"transcript": "XM_005272460.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 504,
"cds_end": null,
"cds_length": 1707,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011527695.1",
"gene_hgnc_id": 16838,
"gene_symbol": "ZNF358",
"hgvs_c": "c.443_444delCCinsTA",
"hgvs_p": "p.Pro148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525997.1",
"strand": true,
"transcript": "XM_011527695.1",
"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": 595,
"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": "ENST00000808452.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000305089",
"hgvs_c": "n.478+3156_478+3157delGGinsTA",
"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": "ENST00000808452.1",
"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": 1059,
"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": "XR_936294.3",
"gene_hgnc_id": null,
"gene_symbol": "LOC105372261",
"hgvs_c": "n.936+3156_936+3157delGGinsTA",
"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": "XR_936294.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 47,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 382,
"cdna_start": null,
"cds_end": null,
"cds_length": 144,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000599312.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267952",
"hgvs_c": "c.*397_*398delCCinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469588.1",
"strand": true,
"transcript": "ENST00000599312.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597384.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267952",
"hgvs_c": "n.*63_*64delCCinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000597384.1",
"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": 293,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602083.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000269371",
"hgvs_c": "n.*230_*231delGGinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000602083.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 16838,
"gene_symbol": "ZNF358",
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.064,
"pos": 7519685,
"ref": "CC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_018083.5"
}
]
}