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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: 7-90413211-ATT-GTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=90413211&ref=ATT&alt=GTG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CLDN12",
"hgnc_id": 2034,
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_012129.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000273299",
"hgnc_id": null,
"hgvs_c": "n.210+7599_210+7601delATTinsGTG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000480135.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000309151",
"hgnc_id": null,
"hgvs_c": "n.145+5234_145+5236delAATinsCAC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000839054.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 790,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001185072.3",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000496677.6",
"protein_coding": true,
"protein_id": "NP_001172001.1",
"strand": true,
"transcript": "NM_001185072.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 790,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000496677.6",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001185072.3",
"protein_coding": true,
"protein_id": "ENSP00000419053.1",
"strand": true,
"transcript": "ENST00000496677.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 822,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000287916.8",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000287916.4",
"strand": true,
"transcript": "ENST00000287916.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 751,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001185073.3",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001172002.1",
"strand": true,
"transcript": "NM_001185073.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": 747,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012129.5",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036261.1",
"strand": true,
"transcript": "NM_012129.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 745,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394605.2",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378103.1",
"strand": true,
"transcript": "ENST00000394605.2",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 825,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905674.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575733.1",
"strand": true,
"transcript": "ENST00000905674.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": 835,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905675.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575734.1",
"strand": true,
"transcript": "ENST00000905675.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3560,
"cdna_start": 817,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905676.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575735.1",
"strand": true,
"transcript": "ENST00000905676.1",
"transcript_support_level": null
},
{
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"aa_length": 244,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 868,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905677.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575736.1",
"strand": true,
"transcript": "ENST00000905677.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 877,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000905678.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575737.1",
"strand": true,
"transcript": "ENST00000905678.1",
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},
{
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],
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"feature": "ENST00000905679.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575738.1",
"strand": true,
"transcript": "ENST00000905679.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3569,
"cdna_start": 828,
"cds_end": null,
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"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905680.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575739.1",
"strand": true,
"transcript": "ENST00000905680.1",
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},
{
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"cdna_start": 796,
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],
"exon_count": 3,
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"feature": "ENST00000905681.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575740.1",
"strand": true,
"transcript": "ENST00000905681.1",
"transcript_support_level": null
},
{
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"aa_length": 244,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 790,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
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],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905682.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575741.1",
"strand": true,
"transcript": "ENST00000905682.1",
"transcript_support_level": null
},
{
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"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 742,
"cds_end": null,
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"cds_start": 535,
"consequences": [
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],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000905683.1",
"gene_hgnc_id": 2034,
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"hgvs_c": "c.535_537delATTinsGTG",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575742.1",
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"transcript_support_level": null
},
{
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"aa_ref": "I",
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"feature": "ENST00000905684.1",
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"hgvs_p": "p.Ile179Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575743.1",
"strand": true,
"transcript": "ENST00000905684.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 758,
"cds_end": null,
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"cds_start": 535,
"consequences": [
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],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000920318.1",
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"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590377.1",
"strand": true,
"transcript": "ENST00000920318.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": 747,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920319.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590378.1",
"strand": true,
"transcript": "ENST00000920319.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "I",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 665,
"cds_end": null,
"cds_length": 735,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920320.1",
"gene_hgnc_id": 2034,
"gene_symbol": "CLDN12",
"hgvs_c": "c.535_537delATTinsGTG",
"hgvs_p": "p.Ile179Val",
"intron_rank": null,
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"mane_plus": null,
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}