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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: 2-36981587-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=36981587&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HEATR5B",
"hgnc_id": 29273,
"hgvs_c": "c.6119G>T",
"hgvs_p": "p.Arg2040Leu",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_019024.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.7502,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8343828916549683,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2071,
"aa_ref": "R",
"aa_start": 2040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6937,
"cdna_start": 6245,
"cds_end": null,
"cds_length": 6216,
"cds_start": 6119,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_019024.3",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6119G>T",
"hgvs_p": "p.Arg2040Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233099.6",
"protein_coding": true,
"protein_id": "NP_061897.1",
"strand": false,
"transcript": "NM_019024.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2071,
"aa_ref": "R",
"aa_start": 2040,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6937,
"cdna_start": 6245,
"cds_end": null,
"cds_length": 6216,
"cds_start": 6119,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000233099.6",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6119G>T",
"hgvs_p": "p.Arg2040Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019024.3",
"protein_coding": true,
"protein_id": "ENSP00000233099.5",
"strand": false,
"transcript": "ENST00000233099.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2071,
"aa_ref": "R",
"aa_start": 2040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7257,
"cdna_start": 6685,
"cds_end": null,
"cds_length": 6216,
"cds_start": 6119,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000903982.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6119G>T",
"hgvs_p": "p.Arg2040Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574041.1",
"strand": false,
"transcript": "ENST00000903982.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2071,
"aa_ref": "R",
"aa_start": 2040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6810,
"cdna_start": 6222,
"cds_end": null,
"cds_length": 6216,
"cds_start": 6119,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000920714.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6119G>T",
"hgvs_p": "p.Arg2040Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590773.1",
"strand": false,
"transcript": "ENST00000920714.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2071,
"aa_ref": "R",
"aa_start": 2040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6856,
"cdna_start": 6281,
"cds_end": null,
"cds_length": 6216,
"cds_start": 6119,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000920715.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6119G>T",
"hgvs_p": "p.Arg2040Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590774.1",
"strand": false,
"transcript": "ENST00000920715.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2071,
"aa_ref": "R",
"aa_start": 2040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7139,
"cdna_start": 6568,
"cds_end": null,
"cds_length": 6216,
"cds_start": 6119,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000920718.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6119G>T",
"hgvs_p": "p.Arg2040Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590777.1",
"strand": false,
"transcript": "ENST00000920718.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "R",
"aa_start": 2039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7006,
"cdna_start": 6268,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6116,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000903978.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6116G>T",
"hgvs_p": "p.Arg2039Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574037.1",
"strand": false,
"transcript": "ENST00000903978.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2070,
"aa_ref": "R",
"aa_start": 2039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6902,
"cdna_start": 6212,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6116,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000903979.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6116G>T",
"hgvs_p": "p.Arg2039Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574038.1",
"strand": false,
"transcript": "ENST00000903979.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2059,
"aa_ref": "R",
"aa_start": 2028,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7301,
"cdna_start": 6187,
"cds_end": null,
"cds_length": 6180,
"cds_start": 6083,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000903977.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6083G>T",
"hgvs_p": "p.Arg2028Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574036.1",
"strand": false,
"transcript": "ENST00000903977.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2040,
"aa_ref": "R",
"aa_start": 2009,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6702,
"cdna_start": 6126,
"cds_end": null,
"cds_length": 6123,
"cds_start": 6026,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000903981.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6026G>T",
"hgvs_p": "p.Arg2009Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574040.1",
"strand": false,
"transcript": "ENST00000903981.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1986,
"aa_ref": "R",
"aa_start": 1955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6538,
"cdna_start": 5961,
"cds_end": null,
"cds_length": 5961,
"cds_start": 5864,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000920717.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.5864G>T",
"hgvs_p": "p.Arg1955Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590776.1",
"strand": false,
"transcript": "ENST00000920717.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1982,
"aa_ref": "R",
"aa_start": 1951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6534,
"cdna_start": 5954,
"cds_end": null,
"cds_length": 5949,
"cds_start": 5852,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000903980.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.5852G>T",
"hgvs_p": "p.Arg1951Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574039.1",
"strand": false,
"transcript": "ENST00000903980.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1961,
"aa_ref": "R",
"aa_start": 1930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6498,
"cdna_start": 5910,
"cds_end": null,
"cds_length": 5886,
"cds_start": 5789,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000920713.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.5789G>T",
"hgvs_p": "p.Arg1930Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590772.1",
"strand": false,
"transcript": "ENST00000920713.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1961,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6935,
"cdna_start": 6355,
"cds_end": null,
"cds_length": 5886,
"cds_start": 5789,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000920716.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.5789G>T",
"hgvs_p": "p.Arg1930Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590775.1",
"strand": false,
"transcript": "ENST00000920716.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1951,
"aa_ref": "R",
"aa_start": 1920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6465,
"cdna_start": 5888,
"cds_end": null,
"cds_length": 5856,
"cds_start": 5759,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000950344.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.5759G>T",
"hgvs_p": "p.Arg1920Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620403.1",
"strand": false,
"transcript": "ENST00000950344.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 2070,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6934,
"cdna_start": 6242,
"cds_end": null,
"cds_length": 6213,
"cds_start": 6116,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_006712034.3",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6116G>T",
"hgvs_p": "p.Arg2039Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712097.1",
"strand": false,
"transcript": "XM_006712034.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 6209,
"cds_end": null,
"cds_length": 6180,
"cds_start": 6083,
"consequences": [
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],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_006712035.5",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6083G>T",
"hgvs_p": "p.Arg2028Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006712098.1",
"strand": false,
"transcript": "XM_006712035.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 6898,
"cdna_start": 6206,
"cds_end": null,
"cds_length": 6177,
"cds_start": 6080,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_047444810.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.6080G>T",
"hgvs_p": "p.Arg2027Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300766.1",
"strand": false,
"transcript": "XM_047444810.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 5978,
"cds_end": null,
"cds_length": 5949,
"cds_start": 5852,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_017004378.2",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.5852G>T",
"hgvs_p": "p.Arg1951Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859867.1",
"strand": false,
"transcript": "XM_017004378.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "R",
"aa_start": 1950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6667,
"cdna_start": 5975,
"cds_end": null,
"cds_length": 5946,
"cds_start": 5849,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_047444811.1",
"gene_hgnc_id": 29273,
"gene_symbol": "HEATR5B",
"hgvs_c": "c.5849G>T",
"hgvs_p": "p.Arg1950Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300767.1",
"strand": false,
"transcript": "XM_047444811.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1970,
"aa_ref": "R",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6634,
"cdna_start": 5942,
"cds_end": null,
"cds_length": 5913,
"cds_start": 5816,
"consequences": [
"missense_variant"
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