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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: 18-36922629-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=36922629&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KIAA1328",
"hgnc_id": 29248,
"hgvs_c": "c.449-36679A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_020776.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000267039",
"hgnc_id": null,
"hgvs_c": "n.41+1145T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000586106.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105372069",
"hgnc_id": null,
"hgvs_c": "n.41+1145T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NR_134585.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 15820,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.93,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 577,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4853,
"cdna_start": null,
"cds_end": null,
"cds_length": 1734,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020776.3",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.449-36679A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000280020.10",
"protein_coding": true,
"protein_id": "NP_065827.1",
"strand": true,
"transcript": "NM_020776.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 577,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4853,
"cdna_start": null,
"cds_end": null,
"cds_length": 1734,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000280020.10",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.449-36679A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020776.3",
"protein_coding": true,
"protein_id": "ENSP00000280020.5",
"strand": true,
"transcript": "ENST00000280020.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 573,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5881,
"cdna_start": null,
"cds_end": null,
"cds_length": 1722,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591619.5",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.437-36679A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465550.1",
"strand": true,
"transcript": "ENST00000591619.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 688,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586106.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267039",
"hgvs_c": "n.41+1145T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000586106.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000590617.5",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "n.*108-36679A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467248.1",
"strand": true,
"transcript": "ENST00000590617.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 436,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 33462,
"cdna_start": null,
"cds_end": null,
"cds_length": 1311,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017025881.2",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.-3620A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881370.1",
"strand": true,
"transcript": "XM_017025881.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 613,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5811,
"cdna_start": null,
"cds_end": null,
"cds_length": 1842,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908902.1",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.449-36679A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578961.1",
"strand": true,
"transcript": "ENST00000908902.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 600,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3256,
"cdna_start": null,
"cds_end": null,
"cds_length": 1803,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000587139.5",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.410-36679A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466355.1",
"strand": true,
"transcript": "ENST00000587139.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 573,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4841,
"cdna_start": null,
"cds_end": null,
"cds_length": 1722,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353918.2",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.449-36691A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340847.1",
"strand": true,
"transcript": "NM_001353918.2",
"transcript_support_level": null
},
{
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"aa_length": 505,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": null,
"cds_end": null,
"cds_length": 1518,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322327.2",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.125-36679A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309256.1",
"strand": true,
"transcript": "NM_001322327.2",
"transcript_support_level": null
},
{
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"aa_length": 469,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4758,
"cdna_start": null,
"cds_end": null,
"cds_length": 1410,
"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "NM_001353919.2",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.125-36679A>G",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001340848.1",
"strand": true,
"transcript": "NM_001353919.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_001353920.2",
"gene_hgnc_id": 29248,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001340849.1",
"strand": true,
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"transcript_support_level": null
},
{
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"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_005258315.6",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.449-36679A>G",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258372.3",
"strand": true,
"transcript": "XM_005258315.6",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 11,
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"feature": "XM_017025876.2",
"gene_hgnc_id": 29248,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016881365.1",
"strand": true,
"transcript": "XM_017025876.2",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_047437677.1",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.437-36679A>G",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047293633.1",
"strand": true,
"transcript": "XM_047437677.1",
"transcript_support_level": null
},
{
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"canonical": false,
"cdna_end": null,
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"cds_length": 1830,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_047437678.1",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.437-36679A>G",
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"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047293634.1",
"strand": true,
"transcript": "XM_047437678.1",
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},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "XM_005258317.4",
"gene_hgnc_id": 29248,
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},
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],
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"feature": "XM_047437679.1",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.437-36679A>G",
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"protein_id": "XP_047293635.1",
"strand": true,
"transcript": "XM_047437679.1",
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},
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"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_005258318.6",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.314-36679A>G",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258375.1",
"strand": true,
"transcript": "XM_005258318.6",
"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": 1707,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011526099.3",
"gene_hgnc_id": 29248,
"gene_symbol": "KIAA1328",
"hgvs_c": "c.314-36679A>G",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524401.1",
"strand": true,
"transcript": "XM_011526099.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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