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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: 8-144882348-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144882348&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144882348,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001109689.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "NM_001109689.4",
"protein_id": "NP_001103159.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 555,
"cds_start": 835,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": "ENST00000417550.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "ENST00000417550.7",
"protein_id": "ENSP00000393442.2",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 555,
"cds_start": 835,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": "NM_001109689.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Glu284Lys",
"transcript": "ENST00000292579.11",
"protein_id": "ENSP00000292579.7",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 560,
"cds_start": 850,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Glu284Lys",
"transcript": "NM_001363098.2",
"protein_id": "NP_001350027.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 560,
"cds_start": 850,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 6414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Glu284Lys",
"transcript": "NM_001363099.2",
"protein_id": "NP_001350028.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 560,
"cds_start": 850,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 6726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Glu284Lys",
"transcript": "NM_021061.5",
"protein_id": "NP_066405.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 560,
"cds_start": 850,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 6352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "NM_001363100.2",
"protein_id": "NP_001350029.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 555,
"cds_start": 835,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 6711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "NM_001363101.2",
"protein_id": "NP_001350030.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 555,
"cds_start": 835,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 6399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "NM_001363102.2",
"protein_id": "NP_001350031.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 555,
"cds_start": 835,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 6427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "NM_001363103.2",
"protein_id": "NP_001350032.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 555,
"cds_start": 835,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Glu263Lys",
"transcript": "NM_001363104.2",
"protein_id": "NP_001350033.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 539,
"cds_start": 787,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 6289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "NM_001363105.2",
"protein_id": "NP_001350034.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 534,
"cds_start": 772,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 6648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "NM_001363106.2",
"protein_id": "NP_001350035.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 534,
"cds_start": 772,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 6274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "NM_001363107.2",
"protein_id": "NP_001350036.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 534,
"cds_start": 772,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Glu284Lys",
"transcript": "XM_047422064.1",
"protein_id": "XP_047278020.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 560,
"cds_start": 850,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 6442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "XM_047422065.1",
"protein_id": "XP_047278021.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 534,
"cds_start": 772,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "n.284-1890G>A",
"hgvs_p": null,
"transcript": "ENST00000528258.5",
"protein_id": "ENSP00000431551.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "n.347-1890G>A",
"hgvs_p": null,
"transcript": "ENST00000529780.5",
"protein_id": "ENSP00000432611.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "n.362-1890G>A",
"hgvs_p": null,
"transcript": "ENST00000533543.5",
"protein_id": "ENSP00000433920.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"dbsnp": "rs143751966",
"frequency_reference_population": 0.00006568193,
"hom_count_reference_population": 0,
"allele_count_reference_population": 106,
"gnomad_exomes_af": 0.0000540521,
"gnomad_genomes_af": 0.000177298,
"gnomad_exomes_ac": 79,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.019613593816757202,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.2241,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.047,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001109689.4",
"gene_symbol": "ZNF250",
"hgnc_id": 13044,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}