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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: 2-32392067-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=32392067&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 32392067,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016252.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "NM_016252.4",
"protein_id": "NP_057336.3",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4857,
"cds_start": 868,
"cds_end": null,
"cds_length": 14574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000421745.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016252.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "ENST00000421745.7",
"protein_id": "ENSP00000393596.2",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 4857,
"cds_start": 868,
"cds_end": null,
"cds_length": 14574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016252.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421745.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.784C>T",
"hgvs_p": "p.Arg262Trp",
"transcript": "NM_001378125.1",
"protein_id": "NP_001365054.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 4856,
"cds_start": 784,
"cds_end": null,
"cds_length": 14571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378125.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "ENST00000700518.1",
"protein_id": "ENSP00000515025.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4840,
"cds_start": 868,
"cds_end": null,
"cds_length": 14523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700518.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "ENST00000700519.1",
"protein_id": "ENSP00000515026.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4837,
"cds_start": 868,
"cds_end": null,
"cds_length": 14514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700519.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Arg235Trp",
"transcript": "ENST00000648282.1",
"protein_id": "ENSP00000498175.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 3840,
"cds_start": 703,
"cds_end": null,
"cds_length": 11524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648282.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_005264450.5",
"protein_id": "XP_005264507.2",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4880,
"cds_start": 868,
"cds_end": null,
"cds_length": 14643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264450.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_006712054.4",
"protein_id": "XP_006712117.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4878,
"cds_start": 868,
"cds_end": null,
"cds_length": 14637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712054.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_005264451.5",
"protein_id": "XP_005264508.2",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4875,
"cds_start": 868,
"cds_end": null,
"cds_length": 14628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264451.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_047445158.1",
"protein_id": "XP_047301114.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4874,
"cds_start": 868,
"cds_end": null,
"cds_length": 14625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445158.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_047445159.1",
"protein_id": "XP_047301115.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4871,
"cds_start": 868,
"cds_end": null,
"cds_length": 14616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445159.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_005264452.5",
"protein_id": "XP_005264509.2",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4870,
"cds_start": 868,
"cds_end": null,
"cds_length": 14613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264452.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_047445160.1",
"protein_id": "XP_047301116.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4869,
"cds_start": 868,
"cds_end": null,
"cds_length": 14610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445160.1"
},
{
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"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_047445161.1",
"protein_id": "XP_047301117.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4866,
"cds_start": 868,
"cds_end": null,
"cds_length": 14601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445161.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_047445162.1",
"protein_id": "XP_047301118.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4865,
"cds_start": 868,
"cds_end": null,
"cds_length": 14598,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445162.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_006712055.4",
"protein_id": "XP_006712118.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4864,
"cds_start": 868,
"cds_end": null,
"cds_length": 14595,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712055.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_047445163.1",
"protein_id": "XP_047301119.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4864,
"cds_start": 868,
"cds_end": null,
"cds_length": 14595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445163.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_005264453.5",
"protein_id": "XP_005264510.2",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264453.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_047445164.1",
"protein_id": "XP_047301120.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 868,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445164.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_047445165.1",
"protein_id": "XP_047301121.1",
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"aa_start": 290,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445165.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_017004556.2",
"protein_id": "XP_016860045.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 4858,
"cds_start": 868,
"cds_end": null,
"cds_length": 14577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004556.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIRC6",
"gene_hgnc_id": 13516,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Trp",
"transcript": "XM_047445166.1",
"protein_id": "XP_047301122.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}