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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: 9-96821186-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=96821186&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF782",
"hgnc_id": 33110,
"hgvs_c": "c.245-1408G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001001662.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.94,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 699,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": null,
"cds_end": null,
"cds_length": 2100,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001001662.3",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.245-1408G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000481138.6",
"protein_coding": true,
"protein_id": "NP_001001662.1",
"strand": false,
"transcript": "NM_001001662.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 699,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": null,
"cds_end": null,
"cds_length": 2100,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000481138.6",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.245-1408G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001001662.3",
"protein_coding": true,
"protein_id": "ENSP00000419397.1",
"strand": false,
"transcript": "ENST00000481138.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 699,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": null,
"cds_end": null,
"cds_length": 2100,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346991.2",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.245-1408G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333920.1",
"strand": false,
"transcript": "NM_001346991.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 699,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": null,
"cds_end": null,
"cds_length": 2100,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535338.5",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.245-1408G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440624.2",
"strand": false,
"transcript": "ENST00000535338.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 699,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": null,
"cds_end": null,
"cds_length": 2100,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917517.1",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.245-1408G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587576.1",
"strand": false,
"transcript": "ENST00000917517.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 693,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5193,
"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893217.1",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.227-1408G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563276.1",
"strand": false,
"transcript": "ENST00000893217.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 693,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3994,
"cdna_start": null,
"cds_end": null,
"cds_length": 2082,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893218.1",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.227-1408G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563277.1",
"strand": false,
"transcript": "ENST00000893218.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 675,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4166,
"cdna_start": null,
"cds_end": null,
"cds_length": 2028,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346993.2",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.173-1408G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333922.1",
"strand": false,
"transcript": "NM_001346993.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 665,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": null,
"cds_end": null,
"cds_length": 1998,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893219.1",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.143-1408G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563278.1",
"strand": false,
"transcript": "ENST00000893219.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 567,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4098,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346995.2",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.-152-1408G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333924.1",
"strand": false,
"transcript": "NM_001346995.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 615,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000478850.5",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.245-1408G>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417577.1",
"strand": false,
"transcript": "ENST00000478850.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "XM_011518315.3",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.245-1408G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011516617.1",
"strand": false,
"transcript": "XM_011518315.3",
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},
{
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"consequences": [
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],
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"feature": "XM_011518318.4",
"gene_hgnc_id": 33110,
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"hgvs_c": "c.245-1408G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011516620.1",
"strand": false,
"transcript": "XM_011518318.4",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "XM_047422870.1",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.245-1408G>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047278826.1",
"strand": false,
"transcript": "XM_047422870.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "XM_011518320.3",
"gene_hgnc_id": 33110,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011516622.1",
"strand": false,
"transcript": "XM_011518320.3",
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},
{
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],
"exon_count": 5,
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"feature": "XM_017014343.3",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.227-1408G>T",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016869832.1",
"strand": false,
"transcript": "XM_017014343.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 4424,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "XM_047422871.1",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.227-1408G>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047278827.1",
"strand": false,
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},
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],
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"feature": "XM_047422872.1",
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"strand": false,
"transcript": "XM_047422872.1",
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},
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"consequences": [
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],
"exon_count": 3,
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"feature": "XM_024447431.2",
"gene_hgnc_id": 33110,
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"hgvs_c": "c.-152-1408G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024303199.1",
"strand": false,
"transcript": "XM_024447431.2",
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 3,
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"feature": "XM_047422873.1",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.-152-1408G>T",
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"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278829.1",
"strand": false,
"transcript": "XM_047422873.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047422874.1",
"gene_hgnc_id": 33110,
"gene_symbol": "ZNF782",
"hgvs_c": "c.-152-1408G>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278830.1",
"strand": false,
"transcript": "XM_047422874.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "pseudogene",
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