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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: 11-68436987-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68436987&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LRP5",
"hgnc_id": 6697,
"hgvs_c": "c.4099G>A",
"hgvs_p": "p.Glu1367Lys",
"inheritance_mode": "AD,AR,Unknown,SD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_002335.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 11,
"allele_count_reference_population": 4,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9253,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "11",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": " autosomal recessive,Exudative vitreoretinopathy 4,Retinal dystrophy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9952855110168457,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1615,
"aa_ref": "E",
"aa_start": 1367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 4223,
"cds_end": null,
"cds_length": 4848,
"cds_start": 4099,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_002335.4",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4099G>A",
"hgvs_p": "p.Glu1367Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294304.12",
"protein_coding": true,
"protein_id": "NP_002326.2",
"strand": true,
"transcript": "NM_002335.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1615,
"aa_ref": "E",
"aa_start": 1367,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 4223,
"cds_end": null,
"cds_length": 4848,
"cds_start": 4099,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000294304.12",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4099G>A",
"hgvs_p": "p.Glu1367Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002335.4",
"protein_coding": true,
"protein_id": "ENSP00000294304.6",
"strand": true,
"transcript": "ENST00000294304.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000529993.5",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "n.*2705G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436652.1",
"strand": true,
"transcript": "ENST00000529993.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000529993.5",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "n.*2705G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436652.1",
"strand": true,
"transcript": "ENST00000529993.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1636,
"aa_ref": "E",
"aa_start": 1388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5223,
"cdna_start": 4278,
"cds_end": null,
"cds_length": 4911,
"cds_start": 4162,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909991.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4162G>A",
"hgvs_p": "p.Glu1388Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580050.1",
"strand": true,
"transcript": "ENST00000909991.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "E",
"aa_start": 1374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 4244,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4120,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909989.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4120G>A",
"hgvs_p": "p.Glu1374Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580048.1",
"strand": true,
"transcript": "ENST00000909989.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1614,
"aa_ref": "E",
"aa_start": 1366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5124,
"cdna_start": 4170,
"cds_end": null,
"cds_length": 4845,
"cds_start": 4096,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909993.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4096G>A",
"hgvs_p": "p.Glu1366Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580052.1",
"strand": true,
"transcript": "ENST00000909993.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "E",
"aa_start": 1301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4967,
"cdna_start": 4022,
"cds_end": null,
"cds_length": 4650,
"cds_start": 3901,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000909990.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.3901G>A",
"hgvs_p": "p.Glu1301Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580049.1",
"strand": true,
"transcript": "ENST00000909990.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1548,
"aa_ref": "E",
"aa_start": 1300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 3948,
"cds_end": null,
"cds_length": 4647,
"cds_start": 3898,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000921489.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.3898G>A",
"hgvs_p": "p.Glu1300Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591548.1",
"strand": true,
"transcript": "ENST00000921489.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1536,
"aa_ref": "E",
"aa_start": 1288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 3973,
"cds_end": null,
"cds_length": 4611,
"cds_start": 3862,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000909992.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.3862G>A",
"hgvs_p": "p.Glu1288Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580051.1",
"strand": true,
"transcript": "ENST00000909992.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1307,
"aa_ref": "E",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 3443,
"cds_end": null,
"cds_length": 3924,
"cds_start": 3175,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921488.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.3175G>A",
"hgvs_p": "p.Glu1059Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591547.1",
"strand": true,
"transcript": "ENST00000921488.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "E",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5199,
"cdna_start": 4245,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001291902.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Glu786Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278831.1",
"strand": true,
"transcript": "NM_001291902.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1662,
"aa_ref": "E",
"aa_start": 1376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 4595,
"cds_end": null,
"cds_length": 4989,
"cds_start": 4126,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011545029.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4126G>A",
"hgvs_p": "p.Glu1376Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543331.1",
"strand": true,
"transcript": "XM_011545029.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1653,
"aa_ref": "E",
"aa_start": 1367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5291,
"cdna_start": 4223,
"cds_end": null,
"cds_length": 4962,
"cds_start": 4099,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_005273994.3",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4099G>A",
"hgvs_p": "p.Glu1367Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274051.1",
"strand": true,
"transcript": "XM_005273994.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1624,
"aa_ref": "E",
"aa_start": 1376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5549,
"cdna_start": 4595,
"cds_end": null,
"cds_length": 4875,
"cds_start": 4126,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011545030.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4126G>A",
"hgvs_p": "p.Glu1376Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543332.1",
"strand": true,
"transcript": "XM_011545030.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1600,
"aa_ref": "E",
"aa_start": 1376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5679,
"cdna_start": 4595,
"cds_end": null,
"cds_length": 4803,
"cds_start": 4126,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011545031.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4126G>A",
"hgvs_p": "p.Glu1376Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543333.1",
"strand": true,
"transcript": "XM_011545031.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "E",
"aa_start": 1376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5427,
"cdna_start": 4595,
"cds_end": null,
"cds_length": 4785,
"cds_start": 4126,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047426948.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4126G>A",
"hgvs_p": "p.Glu1376Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282904.1",
"strand": true,
"transcript": "XM_047426948.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "E",
"aa_start": 1376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5443,
"cdna_start": 4595,
"cds_end": null,
"cds_length": 4761,
"cds_start": 4126,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047426949.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4126G>A",
"hgvs_p": "p.Glu1376Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282905.1",
"strand": true,
"transcript": "XM_047426949.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1556,
"aa_ref": "E",
"aa_start": 1376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5313,
"cdna_start": 4595,
"cds_end": null,
"cds_length": 4671,
"cds_start": 4126,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047426950.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.4126G>A",
"hgvs_p": "p.Glu1376Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282906.1",
"strand": true,
"transcript": "XM_047426950.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "E",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 3219,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017017735.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Glu786Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873224.1",
"strand": true,
"transcript": "XM_017017735.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 833,
"aa_ref": "E",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": 1800,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1639,
"consequences": [
"missense_variant"
],
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