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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: 19-12015146-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12015146&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF433",
"hgnc_id": 20811,
"hgvs_c": "c.1721C>T",
"hgvs_p": "p.Ala574Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001080411.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286098",
"hgnc_id": null,
"hgvs_c": "c.-94+13324G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000652448.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF433-AS1",
"hgnc_id": 53776,
"hgvs_c": "n.257-11048G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000406892.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2075,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "19",
"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": 0.07126200199127197,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 670,
"aa_ref": "A",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1712,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001308348.2",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Ala571Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000550507.7",
"protein_coding": true,
"protein_id": "NP_001295277.1",
"strand": false,
"transcript": "NM_001308348.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 670,
"aa_ref": "A",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1712,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000550507.7",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Ala571Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001308348.2",
"protein_coding": true,
"protein_id": "ENSP00000448099.2",
"strand": false,
"transcript": "ENST00000550507.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 684,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 2094,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000478765.6",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Ala585Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447951.2",
"strand": false,
"transcript": "ENST00000478765.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 638,
"aa_ref": "A",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000419886.7",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Ala539Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393416.2",
"strand": false,
"transcript": "ENST00000419886.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 634,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3215,
"cdna_start": null,
"cds_end": null,
"cds_length": 1905,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652448.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286098",
"hgvs_c": "c.-94+13324G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498410.1",
"strand": true,
"transcript": "ENST00000652448.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1257,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000406892.6",
"gene_hgnc_id": 53776,
"gene_symbol": "ZNF433-AS1",
"hgvs_c": "n.257-11048G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000406892.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 684,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000455504.7",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Ala585Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414857.3",
"strand": false,
"transcript": "ENST00000455504.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 673,
"aa_ref": "A",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1861,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1721,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001080411.3",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1721C>T",
"hgvs_p": "p.Ala574Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073880.1",
"strand": false,
"transcript": "NM_001080411.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 673,
"aa_ref": "A",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1721,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000344980.11",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1721C>T",
"hgvs_p": "p.Ala574Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339767.6",
"strand": false,
"transcript": "ENST00000344980.11",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 672,
"aa_ref": "A",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001308346.2",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1718C>T",
"hgvs_p": "p.Ala573Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295275.1",
"strand": false,
"transcript": "NM_001308346.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 672,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000550745.3",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1718C>T",
"hgvs_p": "p.Ala573Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447205.2",
"strand": false,
"transcript": "ENST00000550745.3",
"transcript_support_level": 3
},
{
"aa_alt": "V",
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"aa_length": 638,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": 1958,
"cds_end": null,
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"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
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"feature": "NM_001308351.2",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Ala539Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295280.1",
"strand": false,
"transcript": "NM_001308351.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 638,
"aa_ref": "A",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001308355.2",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Ala539Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295284.1",
"strand": false,
"transcript": "NM_001308355.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2330,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 1917,
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"consequences": [
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],
"exon_count": 5,
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"feature": "NM_001308357.2",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Ala539Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295286.1",
"strand": false,
"transcript": "NM_001308357.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 638,
"aa_ref": "A",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000547560.6",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Ala539Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448806.2",
"strand": false,
"transcript": "ENST00000547560.6",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 638,
"aa_ref": "A",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000552904.6",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Ala539Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448233.2",
"strand": false,
"transcript": "ENST00000552904.6",
"transcript_support_level": 4
},
{
"aa_alt": "V",
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"aa_length": 623,
"aa_ref": "A",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 1710,
"cds_end": null,
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"cds_start": 1571,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000870917.1",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1571C>T",
"hgvs_p": "p.Ala524Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540976.1",
"strand": false,
"transcript": "ENST00000870917.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 687,
"aa_ref": "A",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2442,
"cdna_start": 2011,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1763,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047438319.1",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Ala588Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294275.1",
"strand": false,
"transcript": "XM_047438319.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 684,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011527725.3",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Ala585Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526027.1",
"strand": false,
"transcript": "XM_011527725.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 672,
"aa_ref": "A",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 1967,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011527728.3",
"gene_hgnc_id": 20811,
"gene_symbol": "ZNF433",
"hgvs_c": "c.1718C>T",
"hgvs_p": "p.Ala573Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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