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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: 2-174575327-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174575327&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174575327,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001375835.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "NM_001375834.1",
"protein_id": "NP_001362763.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000679041.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375834.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000679041.1",
"protein_id": "ENSP00000503603.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375834.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679041.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000272746.9",
"protein_id": "ENSP00000272746.5",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 510,
"cds_start": 235,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272746.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000359761.7",
"protein_id": "ENSP00000352802.3",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359761.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000392547.6",
"protein_id": "ENSP00000376330.2",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392547.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000409891.5",
"protein_id": "ENSP00000386431.1",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 493,
"cds_start": 235,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409891.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000409415.7",
"protein_id": "ENSP00000387150.3",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 403,
"cds_start": 235,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409415.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.217+27850C>T",
"hgvs_p": null,
"transcript": "ENST00000442996.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000442996.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "NM_001375835.1",
"protein_id": "NP_001362764.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 510,
"cds_start": 235,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375835.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "NM_001077269.1",
"protein_id": "NP_001070737.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077269.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "NM_001375832.1",
"protein_id": "NP_001362761.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375832.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "NM_001375833.1",
"protein_id": "NP_001362762.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375833.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "NM_003387.5",
"protein_id": "NP_003378.3",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003387.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000392546.6",
"protein_id": "ENSP00000376329.2",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392546.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000436221.2",
"protein_id": "ENSP00000388454.2",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436221.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000698668.1",
"protein_id": "ENSP00000513869.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698668.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000698701.1",
"protein_id": "ENSP00000513882.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698701.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000856317.1",
"protein_id": "ENSP00000526376.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856317.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000856318.1",
"protein_id": "ENSP00000526377.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856318.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000856319.1",
"protein_id": "ENSP00000526378.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856319.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000856320.1",
"protein_id": "ENSP00000526379.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856320.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000856321.1",
"protein_id": "ENSP00000526380.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 503,
"cds_start": 235,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856321.1"
},
{
"aa_ref": "G",
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{
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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{
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],
"clinvar_disease": "Inborn genetic diseases,Wiskott-Aldrich syndrome 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Wiskott-Aldrich syndrome 2|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}