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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: 2-102172779-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102172779&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 102172779,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000877.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "NM_000877.4",
"protein_id": "NP_000868.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000410023.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000877.4"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000410023.6",
"protein_id": "ENSP00000386380.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000877.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410023.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000409929.5",
"protein_id": "ENSP00000386776.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 538,
"cds_start": 932,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409929.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "NM_001320978.2",
"protein_id": "NP_001307907.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320978.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "NM_001320980.2",
"protein_id": "NP_001307909.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320980.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "NM_001320981.2",
"protein_id": "NP_001307910.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320981.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "NM_001320982.2",
"protein_id": "NP_001307911.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320982.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853658.1",
"protein_id": "ENSP00000523717.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853658.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853659.1",
"protein_id": "ENSP00000523718.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853659.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853660.1",
"protein_id": "ENSP00000523719.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853660.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853661.1",
"protein_id": "ENSP00000523720.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853661.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853662.1",
"protein_id": "ENSP00000523721.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853662.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853663.1",
"protein_id": "ENSP00000523722.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853663.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853664.1",
"protein_id": "ENSP00000523723.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853664.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853665.1",
"protein_id": "ENSP00000523724.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853665.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853666.1",
"protein_id": "ENSP00000523725.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853666.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853667.1",
"protein_id": "ENSP00000523726.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853667.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853668.1",
"protein_id": "ENSP00000523727.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853668.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853670.1",
"protein_id": "ENSP00000523729.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853670.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853671.1",
"protein_id": "ENSP00000523730.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853671.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853672.1",
"protein_id": "ENSP00000523731.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853672.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn",
"transcript": "ENST00000853673.1",
"protein_id": "ENSP00000523732.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
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"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000877.4",
"gene_symbol": "IL1R1",
"hgnc_id": 5993,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.932C>A",
"hgvs_p": "p.Thr311Asn"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000428188.2",
"gene_symbol": "IL1R1-AS1",
"hgnc_id": 53898,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.353-82G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}