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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: 19-36547416-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36547416&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF529",
"hgnc_id": 29328,
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_020951.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 98,
"alphamissense_prediction": null,
"alphamissense_score": 0.781,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"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": "Uncertain_significance",
"computational_score_selected": 0.6592696905136108,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5144,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_020951.5",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000591340.6",
"protein_coding": true,
"protein_id": "NP_066002.3",
"strand": false,
"transcript": "NM_020951.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5144,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000591340.6",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020951.5",
"protein_coding": true,
"protein_id": "ENSP00000465578.1",
"strand": false,
"transcript": "ENST00000591340.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5210,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001145649.2",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139121.1",
"strand": false,
"transcript": "NM_001145649.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5091,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867184.1",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537243.1",
"strand": false,
"transcript": "ENST00000867184.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867185.1",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537244.1",
"strand": false,
"transcript": "ENST00000867185.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867186.1",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537245.1",
"strand": false,
"transcript": "ENST00000867186.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000867187.1",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537246.1",
"strand": false,
"transcript": "ENST00000867187.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4296,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000933095.1",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603154.1",
"strand": false,
"transcript": "ENST00000933095.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 545,
"aa_ref": "L",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5150,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001145650.2",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1088T>G",
"hgvs_p": "p.Leu363Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139122.1",
"strand": false,
"transcript": "NM_001145650.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 458,
"aa_ref": "L",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1377,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321351.2",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.827T>G",
"hgvs_p": "p.Leu276Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308280.1",
"strand": false,
"transcript": "NM_001321351.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 458,
"aa_ref": "L",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5368,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 1377,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001352272.2",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.827T>G",
"hgvs_p": "p.Leu276Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339201.1",
"strand": false,
"transcript": "NM_001352272.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 458,
"aa_ref": "L",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1377,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001352273.2",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.827T>G",
"hgvs_p": "p.Leu276Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339202.1",
"strand": false,
"transcript": "NM_001352273.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 458,
"aa_ref": "L",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5238,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1377,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000334116.7",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.827T>G",
"hgvs_p": "p.Leu276Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334695.7",
"strand": false,
"transcript": "ENST00000334116.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 72,
"aa_ref": "L",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 419,
"cdna_start": 113,
"cds_end": null,
"cds_length": 219,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000590656.1",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468594.1",
"strand": false,
"transcript": "ENST00000590656.1",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5241,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006723302.5",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723365.1",
"strand": false,
"transcript": "XM_006723302.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5296,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011527164.4",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1142T>G",
"hgvs_p": "p.Leu381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525466.1",
"strand": false,
"transcript": "XM_011527164.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 545,
"aa_ref": "L",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5084,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1088,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011527165.4",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.1088T>G",
"hgvs_p": "p.Leu363Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525467.1",
"strand": false,
"transcript": "XM_011527165.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 494,
"aa_ref": "L",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5168,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 1485,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047439140.1",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.935T>G",
"hgvs_p": "p.Leu312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295096.1",
"strand": false,
"transcript": "XM_047439140.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 458,
"aa_ref": "L",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7550,
"cdna_start": 3747,
"cds_end": null,
"cds_length": 1377,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047439141.1",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.827T>G",
"hgvs_p": "p.Leu276Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295097.1",
"strand": false,
"transcript": "XM_047439141.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 111,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 395,
"cdna_start": null,
"cds_end": null,
"cds_length": 336,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452073.2",
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"hgvs_c": "c.205+142T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465917.1",
"strand": false,
"transcript": "ENST00000452073.2",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1262196356",
"effect": "missense_variant",
"frequency_reference_population": 0.00006072744,
"gene_hgnc_id": 29328,
"gene_symbol": "ZNF529",
"gnomad_exomes_ac": 92,
"gnomad_exomes_af": 0.0000629421,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 6,
"gnomad_genomes_af": 0.0000394457,
"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": "Pathogenic",
"phylop100way_score": 8.229,
"pos": 36547416,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.55,
"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_020951.5"
}
]
}