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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: 20-2483449-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=2483449&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF343",
"hgnc_id": 16017,
"hgvs_c": "c.1635G>T",
"hgvs_p": "p.Gln545His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001282497.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000256566",
"hgnc_id": null,
"hgvs_c": "n.304+9250G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000461548.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 28,
"alphamissense_prediction": null,
"alphamissense_score": 0.8911,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03825819492340088,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 599,
"aa_ref": "Q",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1512,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_024325.6",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Gln504His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 599,
"aa_ref": "Q",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1512,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000278772.9",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Gln504His",
"intron_rank": null,
"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": 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.304+9250G>T",
"hgvs_p": null,
"intron_rank": 5,
"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": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Q",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1635,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282497.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1635G>T",
"hgvs_p": "p.Gln545His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Q",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1635,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001321801.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1635G>T",
"hgvs_p": "p.Gln545His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Q",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1635,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000612935.4",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1635G>T",
"hgvs_p": "p.Gln545His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Q",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1635,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911238.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1635G>T",
"hgvs_p": "p.Gln545His",
"intron_rank": null,
"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
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Q",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 1933,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1635,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928352.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1635G>T",
"hgvs_p": "p.Gln545His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598411.1",
"strand": false,
"transcript": "ENST00000928352.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 640,
"aa_ref": "Q",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 1860,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1635,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952206.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1635G>T",
"hgvs_p": "p.Gln545His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622265.1",
"strand": false,
"transcript": "ENST00000952206.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 639,
"aa_ref": "Q",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 1903,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1632,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001321802.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1632G>T",
"hgvs_p": "p.Gln544His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308731.1",
"strand": false,
"transcript": "NM_001321802.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 639,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1632,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001321803.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1632G>T",
"hgvs_p": "p.Gln544His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308732.1",
"strand": false,
"transcript": "NM_001321803.2",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_length": 3556,
"cdna_start": 1924,
"cds_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.1632G>T",
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"intron_rank": null,
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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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"biotype": "protein_coding",
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"cdna_start": 1862,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952204.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1632G>T",
"hgvs_p": "p.Gln544His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622263.1",
"strand": false,
"transcript": "ENST00000952204.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3429,
"cdna_start": 1805,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952205.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1533G>T",
"hgvs_p": "p.Gln511His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622264.1",
"strand": false,
"transcript": "ENST00000952205.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "Q",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1512,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282495.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Gln504His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269424.1",
"strand": false,
"transcript": "NM_001282495.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3373,
"cdna_start": 1741,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1512,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001282496.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Gln504His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269425.1",
"strand": false,
"transcript": "NM_001282496.2",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_start": 1864,
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"consequences": [
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],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321800.2",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1512G>T",
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"intron_rank": 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": 2156,
"cds_end": null,
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"cds_start": 1512,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911235.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Gln504His",
"intron_rank": null,
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"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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"biotype": "protein_coding",
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"cdna_start": 2483,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1512,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911236.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Gln504His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581295.1",
"strand": false,
"transcript": "ENST00000911236.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 599,
"aa_ref": "Q",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": 1741,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1512,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911239.1",
"gene_hgnc_id": 16017,
"gene_symbol": "ZNF343",
"hgvs_c": "c.1512G>T",
"hgvs_p": "p.Gln504His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581298.1",
"strand": false,
"transcript": "ENST00000911239.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3874,
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