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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: 19-14717018-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14717018&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 14717018,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000292530.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Ala251Glu",
"transcript": "NM_032433.4",
"protein_id": "NP_115809.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 665,
"cds_start": 752,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": "ENST00000292530.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Ala251Glu",
"transcript": "ENST00000292530.11",
"protein_id": "ENSP00000292530.5",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 665,
"cds_start": 752,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": "NM_032433.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Ala251Glu",
"transcript": "ENST00000540689.6",
"protein_id": "ENSP00000438130.1",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 303,
"cds_start": 752,
"cds_end": null,
"cds_length": 912,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.425C>A",
"hgvs_p": "p.Ala142Glu",
"transcript": "NM_001352239.2",
"protein_id": "NP_001339168.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 556,
"cds_start": 425,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.425C>A",
"hgvs_p": "p.Ala142Glu",
"transcript": "NM_001352240.2",
"protein_id": "NP_001339169.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 556,
"cds_start": 425,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.314C>A",
"hgvs_p": "p.Ala105Glu",
"transcript": "NM_001352241.2",
"protein_id": "NP_001339170.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 519,
"cds_start": 314,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Ala20Glu",
"transcript": "NM_001352243.2",
"protein_id": "NP_001339172.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 434,
"cds_start": 59,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Ala251Glu",
"transcript": "NM_001352244.2",
"protein_id": "NP_001339173.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 372,
"cds_start": 752,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Ala251Glu",
"transcript": "NM_001300912.2",
"protein_id": "NP_001287841.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 303,
"cds_start": 752,
"cds_end": null,
"cds_length": 912,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Ala251Glu",
"transcript": "XM_011528362.3",
"protein_id": "XP_011526664.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 665,
"cds_start": 752,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.425C>A",
"hgvs_p": "p.Ala142Glu",
"transcript": "XM_047439518.1",
"protein_id": "XP_047295474.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 556,
"cds_start": 425,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 6018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.425C>A",
"hgvs_p": "p.Ala142Glu",
"transcript": "XM_047439519.1",
"protein_id": "XP_047295475.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 556,
"cds_start": 425,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 4654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "c.185C>A",
"hgvs_p": "p.Ala62Glu",
"transcript": "XM_011528371.3",
"protein_id": "XP_011526673.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 476,
"cds_start": 185,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "n.838C>A",
"hgvs_p": null,
"transcript": "ENST00000597301.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "n.*808C>A",
"hgvs_p": null,
"transcript": "ENST00000598161.1",
"protein_id": "ENSP00000471420.1",
"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": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"hgvs_c": "n.*808C>A",
"hgvs_p": null,
"transcript": "ENST00000598161.1",
"protein_id": "ENSP00000471420.1",
"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": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF333",
"gene_hgnc_id": 15624,
"dbsnp": "rs3885179",
"frequency_reference_population": 0.04225306,
"hom_count_reference_population": 1649,
"allele_count_reference_population": 68093,
"gnomad_exomes_af": 0.0423512,
"gnomad_genomes_af": 0.0413119,
"gnomad_exomes_ac": 61805,
"gnomad_genomes_ac": 6288,
"gnomad_exomes_homalt": 1504,
"gnomad_genomes_homalt": 145,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004081785678863525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.2972,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.143,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000292530.11",
"gene_symbol": "ZNF333",
"hgnc_id": 15624,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Ala251Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}