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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: 16-3306834-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3306834&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3306834,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000669516.2",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "c.-117+1191T>C",
"hgvs_p": null,
"transcript": "NM_001302109.2",
"protein_id": "NP_001289038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": "ENST00000669516.2",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "c.-117+1191T>C",
"hgvs_p": null,
"transcript": "ENST00000669516.2",
"protein_id": "ENSP00000499415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": "NM_001302109.2",
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "n.1351T>C",
"hgvs_p": null,
"transcript": "ENST00000575234.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 3989,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "c.-117+428T>C",
"hgvs_p": null,
"transcript": "NM_001324041.1",
"protein_id": "NP_001310970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2632,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "c.-316+1191T>C",
"hgvs_p": null,
"transcript": "NM_153028.4",
"protein_id": "NP_694573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2335,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "c.-316+1191T>C",
"hgvs_p": null,
"transcript": "ENST00000574298.6",
"protein_id": "ENSP00000459566.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2361,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "c.-117+1191T>C",
"hgvs_p": null,
"transcript": "NM_001324085.2",
"protein_id": "NP_001311014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2621,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "c.-543+1191T>C",
"hgvs_p": null,
"transcript": "NM_001352495.2",
"protein_id": "NP_001339424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2208,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "c.-1067+1191T>C",
"hgvs_p": null,
"transcript": "NM_001352497.2",
"protein_id": "NP_001339426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2732,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "c.-1067+428T>C",
"hgvs_p": null,
"transcript": "NM_001352498.2",
"protein_id": "NP_001339427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"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
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75A",
"gene_hgnc_id": 13146,
"hgvs_c": "n.-117+1191T>C",
"hgvs_p": null,
"transcript": "ENST00000498240.6",
"protein_id": "ENSP00000499242.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ZNF75A",
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"transcript": "ENST00000571101.5",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ZNF75A",
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"hgvs_c": "c.-117+500T>C",
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"transcript": "XM_047434587.1",
"protein_id": "XP_047290543.1",
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},
{
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],
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"gene_symbol": "ZNF75A",
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"hgvs_c": "c.-117+1191T>C",
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],
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "ZNF75A",
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],
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"gene_symbol": "ZNF75A",
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"hgvs_c": "c.-1938+1191T>C",
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},
{
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],
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"gene_symbol": "ZNF75A",
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"hgvs_c": "c.-1834+1191T>C",
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"transcript": "XM_047434591.1",
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],
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"gene_symbol": "ZNF75A",
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "ZNF75A",
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"hgvs_c": "c.-117+1191T>C",
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},
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "ZNF75A",
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"hgvs_c": "c.-117+428T>C",
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"feature": null
}
],
"gene_symbol": "ZNF75A",
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"dbsnp": "rs1149483",
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"hom_count_reference_population": 21225,
"allele_count_reference_population": 76735,
"gnomad_exomes_af": 0.277778,
"gnomad_genomes_af": 0.504823,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 76730,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 21224,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9700000286102295,
"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": -0.97,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.055,
"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": "ENST00000669516.2",
"gene_symbol": "ZNF75A",
"hgnc_id": 13146,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-117+1191T>C",
"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
}