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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: 19-43599145-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43599145&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF576",
"hgnc_id": 28357,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_024327.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SRRM5",
"hgnc_id": 37248,
"hgvs_c": "c.-96+1952C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000607544.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9138,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.2,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9131714105606079,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 564,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001145347.2",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336564.5",
"protein_coding": true,
"protein_id": "NP_001138819.1",
"strand": true,
"transcript": "NM_001145347.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 564,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000336564.5",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145347.2",
"protein_coding": true,
"protein_id": "ENSP00000337852.4",
"strand": true,
"transcript": "ENST00000336564.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 609,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024327.2",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_077303.1",
"strand": true,
"transcript": "NM_024327.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 609,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000391965.6",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375827.2",
"strand": true,
"transcript": "ENST00000391965.6",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000525771.1",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436182.1",
"strand": true,
"transcript": "ENST00000525771.1",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 479,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000528387.5",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435934.1",
"strand": true,
"transcript": "ENST00000528387.5",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": 561,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000529930.1",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435463.1",
"strand": true,
"transcript": "ENST00000529930.1",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 867,
"cdna_start": 518,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533118.5",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435899.1",
"strand": true,
"transcript": "ENST00000533118.5",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 458,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895833.1",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565892.1",
"strand": true,
"transcript": "ENST00000895833.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": 451,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895834.1",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565893.1",
"strand": true,
"transcript": "ENST00000895834.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1327,
"cdna_start": 465,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934409.1",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604468.1",
"strand": true,
"transcript": "ENST00000934409.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 565,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934410.1",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604469.1",
"strand": true,
"transcript": "ENST00000934410.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 170,
"aa_ref": "H",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 834,
"cdna_start": 565,
"cds_end": null,
"cds_length": 513,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934411.1",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.His134Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604470.1",
"strand": true,
"transcript": "ENST00000934411.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 154,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 686,
"cdna_start": 418,
"cds_end": null,
"cds_length": 465,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895835.1",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.352C>T",
"hgvs_p": "p.His118Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565894.1",
"strand": true,
"transcript": "ENST00000895835.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 154,
"aa_ref": "H",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 763,
"cdna_start": 497,
"cds_end": null,
"cds_length": 465,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895836.1",
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"hgvs_c": "c.352C>T",
"hgvs_p": "p.His118Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565895.1",
"strand": true,
"transcript": "ENST00000895836.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 715,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": null,
"cds_end": null,
"cds_length": 2148,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000607544.1",
"gene_hgnc_id": 37248,
"gene_symbol": "SRRM5",
"hgvs_c": "c.-96+1952C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476253.1",
"strand": true,
"transcript": "ENST00000607544.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1973182563",
"effect": "missense_variant",
"frequency_reference_population": 0.0000018585771,
"gene_hgnc_id": 28357,
"gene_symbol": "ZNF576",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656814,
"gnomad_genomes_homalt": 0,
"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 specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.487,
"pos": 43599145,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.66,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_024327.2"
}
]
}