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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: 7-100064250-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100064250&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100064250,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145914.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Lys",
"transcript": "NM_145914.3",
"protein_id": "NP_666019.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 473,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": "ENST00000292450.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Lys",
"transcript": "ENST00000292450.9",
"protein_id": "ENSP00000292450.4",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 473,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": "NM_145914.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF3",
"gene_hgnc_id": 13089,
"hgvs_c": "c.*538C>T",
"hgvs_p": null,
"transcript": "ENST00000413658.6",
"protein_id": "ENSP00000399951.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Lys",
"transcript": "NM_001362779.2",
"protein_id": "NP_001349708.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 473,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Lys",
"transcript": "NM_001362780.2",
"protein_id": "NP_001349709.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 473,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Glu318Lys",
"transcript": "NM_001362781.2",
"protein_id": "NP_001349710.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 450,
"cds_start": 952,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Glu318Lys",
"transcript": "ENST00000456748.6",
"protein_id": "ENSP00000390960.2",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 450,
"cds_start": 952,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Lys",
"transcript": "XM_005250568.5",
"protein_id": "XP_005250625.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 473,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Lys",
"transcript": "XM_006716113.4",
"protein_id": "XP_006716176.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 473,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Lys",
"transcript": "XM_047420806.1",
"protein_id": "XP_047276762.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 473,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Glu318Lys",
"transcript": "XM_047420807.1",
"protein_id": "XP_047276763.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 450,
"cds_start": 952,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 3070,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "n.856G>A",
"hgvs_p": null,
"transcript": "ENST00000477297.1",
"protein_id": null,
"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": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF3",
"gene_hgnc_id": 13089,
"hgvs_c": "c.*538C>T",
"hgvs_p": null,
"transcript": "NM_017715.4",
"protein_id": "NP_060185.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF3",
"gene_hgnc_id": 13089,
"hgvs_c": "c.*538C>T",
"hgvs_p": null,
"transcript": "NM_001318137.2",
"protein_id": "NP_001305066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": -4,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF3",
"gene_hgnc_id": 13089,
"hgvs_c": "c.*538C>T",
"hgvs_p": null,
"transcript": "XM_047420802.1",
"protein_id": "XP_047276758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF3",
"gene_hgnc_id": 13089,
"hgvs_c": "c.*538C>T",
"hgvs_p": null,
"transcript": "NM_001371210.1",
"protein_id": "NP_001358139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"dbsnp": "rs774647848",
"frequency_reference_population": 0.00004894599,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000485676,
"gnomad_genomes_af": 0.0000525818,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05824485421180725,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.5142,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.997,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_145914.3",
"gene_symbol": "ZSCAN21",
"hgnc_id": 13104,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352Lys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017715.4",
"gene_symbol": "ZNF3",
"hgnc_id": 13089,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*538C>T",
"hgvs_p": null
}
],
"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
}