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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: 7-92098173-ATT-GTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92098173&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": "AKAP9",
"hgnc_id": 379,
"hgvs_c": "c.10672_10674delATTinsGTG",
"hgvs_p": "p.Ile3558Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005751.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "CYP51A1",
"hgnc_id": 2649,
"hgvs_c": "c.1352-12573_1352-12571delAATinsCAC",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000691309.1",
"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": 3907,
"aa_ref": "I",
"aa_start": 3558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12476,
"cdna_start": 10910,
"cds_end": null,
"cds_length": 11724,
"cds_start": 10672,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005751.5",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10672_10674delATTinsGTG",
"hgvs_p": "p.Ile3558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356239.8",
"protein_coding": true,
"protein_id": "NP_005742.4",
"strand": true,
"transcript": "NM_005751.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3907,
"aa_ref": "I",
"aa_start": 3558,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12476,
"cdna_start": 10910,
"cds_end": null,
"cds_length": 11724,
"cds_start": 10672,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356239.8",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10672_10674delATTinsGTG",
"hgvs_p": "p.Ile3558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005751.5",
"protein_coding": true,
"protein_id": "ENSP00000348573.3",
"strand": true,
"transcript": "ENST00000356239.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2122,
"aa_ref": "I",
"aa_start": 1773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7413,
"cdna_start": 5860,
"cds_end": null,
"cds_length": 6369,
"cds_start": 5317,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000491695.2",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.5317_5319delATTinsGTG",
"hgvs_p": "p.Ile1773Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494626.2",
"strand": true,
"transcript": "ENST00000491695.2",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1571,
"aa_ref": "I",
"aa_start": 1222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5149,
"cdna_start": 3664,
"cds_end": null,
"cds_length": 4716,
"cds_start": 3664,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394534.7",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.3664_3666delATTinsGTG",
"hgvs_p": "p.Ile1222Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378042.3",
"strand": true,
"transcript": "ENST00000394534.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3931,
"aa_ref": "I",
"aa_start": 3582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12219,
"cdna_start": 10744,
"cds_end": null,
"cds_length": 11796,
"cds_start": 10744,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359028.7",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10744_10746delATTinsGTG",
"hgvs_p": "p.Ile3582Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351922.4",
"strand": true,
"transcript": "ENST00000359028.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3923,
"aa_ref": "I",
"aa_start": 3558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13915,
"cdna_start": 10894,
"cds_end": null,
"cds_length": 11772,
"cds_start": 10672,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681412.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10672_10674delATTinsGTG",
"hgvs_p": "p.Ile3558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506486.1",
"strand": true,
"transcript": "ENST00000681412.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3920,
"aa_ref": "I",
"aa_start": 3571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12537,
"cdna_start": 10971,
"cds_end": null,
"cds_length": 11763,
"cds_start": 10711,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680534.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10711_10713delATTinsGTG",
"hgvs_p": "p.Ile3571Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506674.1",
"strand": true,
"transcript": "ENST00000680534.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3915,
"aa_ref": "I",
"aa_start": 3550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12328,
"cdna_start": 10886,
"cds_end": null,
"cds_length": 11748,
"cds_start": 10648,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681722.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10648_10650delATTinsGTG",
"hgvs_p": "p.Ile3550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506566.1",
"strand": true,
"transcript": "ENST00000681722.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 3899,
"aa_ref": "I",
"aa_start": 3550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12452,
"cdna_start": 10886,
"cds_end": null,
"cds_length": 11700,
"cds_start": 10648,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_147185.3",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10648_10650delATTinsGTG",
"hgvs_p": "p.Ile3550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_671714.1",
"strand": true,
"transcript": "NM_147185.3",
"transcript_support_level": null
},
{
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"aa_length": 3899,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12423,
"cdna_start": 10870,
"cds_end": null,
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"consequences": [
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],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680766.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10648_10650delATTinsGTG",
"hgvs_p": "p.Ile3550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505204.1",
"strand": true,
"transcript": "ENST00000680766.1",
"transcript_support_level": null
},
{
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"aa_length": 3889,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12422,
"cdna_start": 10856,
"cds_end": null,
"cds_length": 11670,
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"consequences": [
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],
"exon_count": 49,
"exon_rank": null,
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"feature": "ENST00000679521.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10618_10620delATTinsGTG",
"hgvs_p": "p.Ile3540Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505456.1",
"strand": true,
"transcript": "ENST00000679521.1",
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},
{
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"aa_length": 3876,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12370,
"cdna_start": 10817,
"cds_end": null,
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000680181.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10579_10581delATTinsGTG",
"hgvs_p": "p.Ile3527Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000505548.1",
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"transcript": "ENST00000680181.1",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 10805,
"cds_end": null,
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"cds_start": 10567,
"consequences": [
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],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925975.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10567_10569delATTinsGTG",
"hgvs_p": "p.Ile3523Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596034.1",
"strand": true,
"transcript": "ENST00000925975.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000680513.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10531_10533delATTinsGTG",
"hgvs_p": "p.Ile3511Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505284.1",
"strand": true,
"transcript": "ENST00000680513.1",
"transcript_support_level": null
},
{
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"aa_length": 3852,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12052,
"cdna_start": 10728,
"cds_end": null,
"cds_length": 11559,
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"consequences": [
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],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925977.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10507_10509delATTinsGTG",
"hgvs_p": "p.Ile3503Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596036.1",
"strand": true,
"transcript": "ENST00000925977.1",
"transcript_support_level": null
},
{
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"aa_length": 3848,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12321,
"cdna_start": 10755,
"cds_end": null,
"cds_length": 11547,
"cds_start": 10495,
"consequences": [
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],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680072.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10495_10497delATTinsGTG",
"hgvs_p": "p.Ile3499Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506581.1",
"strand": true,
"transcript": "ENST00000680072.1",
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},
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"consequences": [
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"feature": "ENST00000925976.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10459_10461delATTinsGTG",
"hgvs_p": "p.Ile3487Val",
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000596035.1",
"strand": true,
"transcript": "ENST00000925976.1",
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},
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"aa_ref": "I",
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"cds_end": null,
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000680952.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10648_10650delATTinsGTG",
"hgvs_p": "p.Ile3550Val",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000680952.1",
"transcript_support_level": null
},
{
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"aa_length": 3821,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 12207,
"cdna_start": 10654,
"cds_end": null,
"cds_length": 11466,
"cds_start": 10414,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679821.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.10414_10416delATTinsGTG",
"hgvs_p": "p.Ile3472Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506040.1",
"strand": true,
"transcript": "ENST00000679821.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2122,
"aa_ref": "I",
"aa_start": 1773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7474,
"cdna_start": 5908,
"cds_end": null,
"cds_length": 6369,
"cds_start": 5317,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379277.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.5317_5319delATTinsGTG",
"hgvs_p": "p.Ile1773Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366206.1",
"strand": true,
"transcript": "NM_001379277.1",
"transcript_support_level": null
},
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