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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: 11-40114846-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=40114846&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 40114846,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020929.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "NM_001258419.2",
"protein_id": "NP_001245348.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000528697.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258419.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000528697.6",
"protein_id": "ENSP00000437132.1",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001258419.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528697.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000278198.2",
"protein_id": "ENSP00000278198.1",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278198.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000527150.5",
"protein_id": "ENSP00000436976.1",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527150.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000530763.5",
"protein_id": "ENSP00000434761.1",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530763.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "NM_020929.3",
"protein_id": "NP_065980.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020929.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000901039.1",
"protein_id": "ENSP00000571098.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901039.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000901040.1",
"protein_id": "ENSP00000571099.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901040.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000901041.1",
"protein_id": "ENSP00000571100.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901041.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000901042.1",
"protein_id": "ENSP00000571101.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901042.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000901043.1",
"protein_id": "ENSP00000571102.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901043.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000901044.1",
"protein_id": "ENSP00000571103.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901044.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000966813.1",
"protein_id": "ENSP00000636872.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966813.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000966814.1",
"protein_id": "ENSP00000636873.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966814.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000966815.1",
"protein_id": "ENSP00000636874.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966815.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000966816.1",
"protein_id": "ENSP00000636875.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966816.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000966817.1",
"protein_id": "ENSP00000636876.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966817.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000966818.1",
"protein_id": "ENSP00000636877.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966818.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000966819.1",
"protein_id": "ENSP00000636878.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966819.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "XM_011520238.4",
"protein_id": "XP_011518540.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520238.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "XM_011520239.4",
"protein_id": "XP_011518541.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520239.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC4C",
"gene_hgnc_id": 29317,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "XM_011520240.4",
"protein_id": "XP_011518542.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 640,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"hgnc_id": 29317,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Asp483Asn"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000822121.1",
"gene_symbol": "ENSG00000306946",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.206+2244C>T",
"hgvs_p": null
}
],
"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
}