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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: X-65518442-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=65518442&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 65518442,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000374811.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Gly491Asp",
"transcript": "NM_031206.7",
"protein_id": "NP_112483.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 734,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": "ENST00000374811.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Gly491Asp",
"transcript": "ENST00000374811.8",
"protein_id": "ENSP00000363944.3",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 734,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": "NM_031206.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Gly474Asp",
"transcript": "ENST00000374807.9",
"protein_id": "ENSP00000363940.5",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 717,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Gly491Asp",
"transcript": "NM_001375328.1",
"protein_id": "NP_001362257.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 733,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Gly474Asp",
"transcript": "NM_001170649.2",
"protein_id": "NP_001164120.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 717,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Gly474Asp",
"transcript": "NM_001375333.1",
"protein_id": "NP_001362262.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 716,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Gly432Asp",
"transcript": "NM_001170650.2",
"protein_id": "NP_001164121.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 675,
"cds_start": 1295,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Gly432Asp",
"transcript": "ENST00000374804.9",
"protein_id": "ENSP00000363937.5",
"transcript_support_level": 2,
"aa_start": 432,
"aa_end": null,
"aa_length": 675,
"cds_start": 1295,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Gly474Asp",
"transcript": "ENST00000677969.1",
"protein_id": "ENSP00000503410.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 634,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1124G>A",
"hgvs_p": "p.Gly375Asp",
"transcript": "ENST00000677087.1",
"protein_id": "ENSP00000503907.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 618,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Gly172Asp",
"transcript": "NM_001375332.1",
"protein_id": "NP_001362261.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 415,
"cds_start": 515,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Gly449Asp",
"transcript": "XM_011531045.3",
"protein_id": "XP_011529347.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 692,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.*3344G>A",
"hgvs_p": null,
"transcript": "ENST00000484069.1",
"protein_id": "ENSP00000473471.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.5527G>A",
"hgvs_p": null,
"transcript": "ENST00000677154.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.1460G>A",
"hgvs_p": null,
"transcript": "ENST00000677834.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.2521G>A",
"hgvs_p": null,
"transcript": "ENST00000677986.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.4099G>A",
"hgvs_p": null,
"transcript": "ENST00000678074.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.6090G>A",
"hgvs_p": null,
"transcript": "ENST00000678547.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.4187G>A",
"hgvs_p": null,
"transcript": "ENST00000678705.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.6375G>A",
"hgvs_p": null,
"transcript": "ENST00000678848.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.*1328G>A",
"hgvs_p": null,
"transcript": "ENST00000678956.1",
"protein_id": "ENSP00000504653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.5450G>A",
"hgvs_p": null,
"transcript": "ENST00000679056.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.6665G>A",
"hgvs_p": null,
"transcript": "ENST00000679116.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.68,
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"phylop100way_prediction": "Benign",
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{
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],
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],
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],
"clinvar_disease": "Wilson-Turner syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Wilson-Turner syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}