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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: 19-36939414-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36939414&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": "ZNF568",
"hgnc_id": 25392,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_198539.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000291239",
"hgnc_id": null,
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000706165.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 55060,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": null,
"cds_end": null,
"cds_length": 1935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198539.4",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333987.12",
"protein_coding": true,
"protein_id": "NP_940941.2",
"strand": true,
"transcript": "NM_198539.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": null,
"cds_end": null,
"cds_length": 1935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000333987.12",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198539.4",
"protein_coding": true,
"protein_id": "ENSP00000334685.7",
"strand": true,
"transcript": "ENST00000333987.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 635,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9868,
"cdna_start": null,
"cds_end": null,
"cds_length": 1908,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444991.6",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389794.2",
"strand": true,
"transcript": "ENST00000444991.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 635,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3600,
"cdna_start": null,
"cds_end": null,
"cds_length": 1908,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706165.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000291239",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516244.1",
"strand": true,
"transcript": "ENST00000706165.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 580,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3774,
"cdna_start": null,
"cds_end": null,
"cds_length": 1743,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000415168.5",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394514.1",
"strand": true,
"transcript": "ENST00000415168.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 171,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": null,
"cds_end": null,
"cds_length": 516,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427117.6",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407012.1",
"strand": true,
"transcript": "ENST00000427117.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": null,
"cds_end": null,
"cds_length": 1935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706170.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516249.1",
"strand": true,
"transcript": "ENST00000706170.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4416,
"cdna_start": null,
"cds_end": null,
"cds_length": 1935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868355.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538414.1",
"strand": true,
"transcript": "ENST00000868355.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 643,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": null,
"cds_end": null,
"cds_length": 1932,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001204835.3",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191764.1",
"strand": true,
"transcript": "NM_001204835.3",
"transcript_support_level": null
},
{
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"aa_length": 643,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": null,
"cds_end": null,
"cds_length": 1932,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868356.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538415.1",
"strand": true,
"transcript": "ENST00000868356.1",
"transcript_support_level": null
},
{
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"aa_length": 643,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3985,
"cdna_start": null,
"cds_end": null,
"cds_length": 1932,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
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"feature": "ENST00000959600.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629659.1",
"strand": true,
"transcript": "ENST00000959600.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 10,
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"feature": "NM_001204838.2",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001191767.1",
"strand": true,
"transcript": "NM_001204838.2",
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},
{
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"consequences": [
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],
"exon_count": 6,
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"feature": "NM_001204836.2",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191765.1",
"strand": true,
"transcript": "NM_001204836.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "NM_001204837.2",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001191766.1",
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"transcript": "NM_001204837.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000587130.6",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000467578.2",
"strand": true,
"transcript": "ENST00000587130.6",
"transcript_support_level": 4
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000587857.6",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000466901.2",
"strand": true,
"transcript": "ENST00000587857.6",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 9,
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"feature": "NM_001204839.2",
"gene_hgnc_id": 25392,
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"hgvs_c": "c.166+2172A>G",
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"protein_id": "NP_001191768.1",
"strand": true,
"transcript": "NM_001204839.2",
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},
{
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000455427.7",
"gene_hgnc_id": 25392,
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"hgvs_c": "c.166+2172A>G",
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"protein_coding": true,
"protein_id": "ENSP00000413396.2",
"strand": true,
"transcript": "ENST00000455427.7",
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},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000706169.1",
"gene_hgnc_id": 25392,
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"hgvs_c": "c.166+2172A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000516248.1",
"strand": true,
"transcript": "ENST00000706169.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": null,
"cds_end": null,
"cds_length": 375,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706167.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.358+2172A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516246.1",
"strand": true,
"transcript": "ENST00000706167.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": null,
"cds_end": null,
"cds_length": 324,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706166.1",
"gene_hgnc_id": 25392,
"gene_symbol": "ZNF568",
"hgvs_c": "c.166+2172A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
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