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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: 19-36996730-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36996730&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF568",
"hgnc_id": 25392,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Ala347Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001204838.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000291239",
"hgnc_id": null,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Ala347Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000706165.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 808291,
"alphamissense_prediction": null,
"alphamissense_score": 0.0698,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00000882233780430397,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 635,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9868,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000444991.6",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Ala347Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389794.2",
"strand": true,
"transcript": "ENST00000444991.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 635,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3600,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000706165.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291239",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Ala347Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516244.1",
"strand": true,
"transcript": "ENST00000706165.1",
"transcript_support_level": null
},
{
"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": 3178,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000591887.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "n.1208G>A",
"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": "ENST00000591887.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 635,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2756,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001204838.2",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Ala347Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191767.1",
"strand": true,
"transcript": "NM_001204838.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 571,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 1716,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001204839.2",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Ala283Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191768.1",
"strand": true,
"transcript": "NM_001204839.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 571,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1716,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000455427.7",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Ala283Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413396.2",
"strand": true,
"transcript": "ENST00000455427.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 503,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1512,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000433993.6",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Ala215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399643.2",
"strand": true,
"transcript": "ENST00000433993.6",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 470,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1413,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000706173.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Ala182Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516252.1",
"strand": true,
"transcript": "ENST00000706173.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 635,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 2225,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017026772.2",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Ala347Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882261.1",
"strand": true,
"transcript": "XM_017026772.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 261,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": null,
"cds_end": null,
"cds_length": 786,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706169.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.676+171G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516248.1",
"strand": true,
"transcript": "ENST00000706169.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 193,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": null,
"cds_end": null,
"cds_length": 582,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706172.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.472+171G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516251.1",
"strand": true,
"transcript": "ENST00000706172.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706171.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "n.*475+171G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000516250.1",
"strand": true,
"transcript": "ENST00000706171.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 78,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 561,
"cdna_start": null,
"cds_end": null,
"cds_length": 239,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455817.5",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.*212G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407153.1",
"strand": true,
"transcript": "ENST00000455817.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs935706",
"effect": "missense_variant",
"frequency_reference_population": 0.5260174,
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"gnomad_exomes_ac": 726946,
"gnomad_exomes_af": 0.525016,
"gnomad_exomes_homalt": 192679,
"gnomad_genomes_ac": 81345,
"gnomad_genomes_af": 0.535143,
"gnomad_genomes_homalt": 22285,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 214964,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.498,
"pos": 36996730,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.028,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001204838.2"
}
]
}