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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: 20-2496132-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=2496132&ref=A&alt=T&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": "ZNF343",
"hgnc_id": 16017,
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001282497.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000256566",
"hgnc_id": null,
"hgvs_c": "n.-149-2088T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000461548.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 63625,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.03,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024325.6",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278772.9",
"protein_coding": true,
"protein_id": "NP_077301.4",
"strand": false,
"transcript": "NM_024325.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000278772.9",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024325.6",
"protein_coding": true,
"protein_id": "ENSP00000278772.4",
"strand": false,
"transcript": "ENST00000278772.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 143,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1028,
"cdna_start": null,
"cds_end": null,
"cds_length": 434,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000445484.5",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-259-608T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399682.1",
"strand": false,
"transcript": "ENST00000445484.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 118,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 819,
"cdna_start": null,
"cds_end": null,
"cds_length": 357,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381253.5",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370652.1",
"strand": false,
"transcript": "ENST00000381253.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 823,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000461548.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000256566",
"hgvs_c": "n.-149-2088T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456213.1",
"strand": false,
"transcript": "ENST00000461548.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 640,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282497.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269426.1",
"strand": false,
"transcript": "NM_001282497.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 640,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321801.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308730.1",
"strand": false,
"transcript": "NM_001321801.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 640,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000612935.4",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-259-608T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482819.1",
"strand": false,
"transcript": "ENST00000612935.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 640,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911238.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581297.1",
"strand": false,
"transcript": "ENST00000911238.1",
"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": 3565,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000928352.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000598411.1",
"strand": false,
"transcript": "ENST00000928352.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000952206.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-107-2130T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000622265.1",
"strand": false,
"transcript": "ENST00000952206.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 7,
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"feature": "NM_001321802.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001308731.1",
"strand": false,
"transcript": "NM_001321802.2",
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},
{
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"consequences": [
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],
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"feature": "NM_001321803.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001308732.1",
"strand": false,
"transcript": "NM_001321803.2",
"transcript_support_level": null
},
{
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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": 7,
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"feature": "ENST00000911237.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581296.1",
"strand": false,
"transcript": "ENST00000911237.1",
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},
{
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"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000952204.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-107-2130T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000622263.1",
"strand": false,
"transcript": "ENST00000952204.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_length": 1821,
"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000952205.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622264.1",
"strand": false,
"transcript": "ENST00000952205.1",
"transcript_support_level": null
},
{
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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": 7,
"exon_rank": null,
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"feature": "NM_001282495.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-259-608T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001269424.1",
"strand": false,
"transcript": "NM_001282495.1",
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},
{
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"consequences": [
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],
"exon_count": 6,
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"feature": "NM_001282496.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-107-2130T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001269425.1",
"strand": false,
"transcript": "NM_001282496.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 6,
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"feature": "NM_001321800.2",
"gene_hgnc_id": 16017,
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"hgvs_c": "c.-149-2088T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001308729.1",
"strand": false,
"transcript": "NM_001321800.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911235.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581294.1",
"strand": false,
"transcript": "ENST00000911235.1",
"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": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911236.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.-149-2088T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
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