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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: 19-36939414-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36939414&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36939414,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000333987.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "NM_198539.4",
"protein_id": "NP_940941.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": "ENST00000333987.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000333987.12",
"protein_id": "ENSP00000334685.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": "NM_198539.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000444991.6",
"protein_id": "ENSP00000389794.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": -4,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291239",
"gene_hgnc_id": null,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000706165.1",
"protein_id": "ENSP00000516244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": -4,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000415168.5",
"protein_id": "ENSP00000394514.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000427117.6",
"protein_id": "ENSP00000407012.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000706170.1",
"protein_id": "ENSP00000516249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "NM_001204835.3",
"protein_id": "NP_001191764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "NM_001204838.2",
"protein_id": "NP_001191767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": -4,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"transcript": "NM_001204836.2",
"protein_id": "NP_001191765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"transcript": "NM_001204837.2",
"protein_id": "NP_001191766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
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"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000587130.6",
"protein_id": "ENSP00000467578.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000587857.6",
"protein_id": "ENSP00000466901.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2805,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"transcript": "NM_001204839.2",
"protein_id": "NP_001191768.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000455427.7",
"protein_id": "ENSP00000413396.2",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000706169.1",
"protein_id": "ENSP00000516248.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000706167.1",
"protein_id": "ENSP00000516246.1",
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"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"transcript": "ENST00000706166.1",
"protein_id": "ENSP00000516245.1",
"transcript_support_level": null,
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"cdna_length": 3499,
"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "n.*223+2172A>G",
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"transcript": "ENST00000706168.1",
"protein_id": "ENSP00000516247.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "ZNF568",
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"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "XM_047438787.1",
"protein_id": "XP_047294743.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"transcript": "XM_017026772.2",
"protein_id": "XP_016882261.1",
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"feature": null
}
],
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"dbsnp": "rs505717",
"frequency_reference_population": 0.36230835,
"hom_count_reference_population": 10263,
"allele_count_reference_population": 55060,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.362308,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 55060,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10263,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.866,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000333987.12",
"gene_symbol": "ZNF568",
"hgnc_id": 25392,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000706165.1",
"gene_symbol": "ENSG00000291239",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}