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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: 11-68411509-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68411509&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM1",
"PP2",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LRP5",
"hgnc_id": 6697,
"hgvs_c": "c.2392A>G",
"hgvs_p": "p.Thr798Ala",
"inheritance_mode": "AD,AR,Unknown,SD",
"pathogenic_score": 3,
"score": -1,
"transcript": "NM_002335.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP2,BS1",
"acmg_score": -1,
"allele_count_reference_population": 23,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0878,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.4,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "6 conditions",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4711141288280487,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1615,
"aa_ref": "T",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 4848,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_002335.4",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2392A>G",
"hgvs_p": "p.Thr798Ala",
"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": "A",
"aa_end": null,
"aa_length": 1615,
"aa_ref": "T",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 4848,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000294304.12",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2392A>G",
"hgvs_p": "p.Thr798Ala",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000529993.5",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "n.*998A>G",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000529993.5",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "n.*998A>G",
"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": "A",
"aa_end": null,
"aa_length": 1636,
"aa_ref": "T",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5223,
"cdna_start": 2571,
"cds_end": null,
"cds_length": 4911,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000909991.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2455A>G",
"hgvs_p": "p.Thr819Ala",
"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": "A",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "T",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 4869,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000909989.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2392A>G",
"hgvs_p": "p.Thr798Ala",
"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": "A",
"aa_end": null,
"aa_length": 1614,
"aa_ref": "T",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5124,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 4845,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000909993.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2392A>G",
"hgvs_p": "p.Thr798Ala",
"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": "A",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "T",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4952,
"cdna_start": 2494,
"cds_end": null,
"cds_length": 4737,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000909994.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2392A>G",
"hgvs_p": "p.Thr798Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580053.1",
"strand": true,
"transcript": "ENST00000909994.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "T",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4967,
"cdna_start": 2315,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2194,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909990.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2194A>G",
"hgvs_p": "p.Thr732Ala",
"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": "A",
"aa_end": null,
"aa_length": 1548,
"aa_ref": "T",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 2244,
"cds_end": null,
"cds_length": 4647,
"cds_start": 2194,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000921489.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2194A>G",
"hgvs_p": "p.Thr732Ala",
"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": "A",
"aa_end": null,
"aa_length": 1536,
"aa_ref": "T",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 2503,
"cds_end": null,
"cds_length": 4611,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000909992.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2392A>G",
"hgvs_p": "p.Thr798Ala",
"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": "A",
"aa_end": null,
"aa_length": 1307,
"aa_ref": "T",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 3924,
"cds_start": 1468,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000921488.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.1468A>G",
"hgvs_p": "p.Thr490Ala",
"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": "A",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "T",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5199,
"cdna_start": 2538,
"cds_end": null,
"cds_length": 3105,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001291902.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Thr217Ala",
"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": "A",
"aa_end": null,
"aa_length": 1662,
"aa_ref": "T",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 4989,
"cds_start": 2419,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011545029.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2419A>G",
"hgvs_p": "p.Thr807Ala",
"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": "A",
"aa_end": null,
"aa_length": 1653,
"aa_ref": "T",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5291,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 4962,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005273994.3",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2392A>G",
"hgvs_p": "p.Thr798Ala",
"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": "A",
"aa_end": null,
"aa_length": 1624,
"aa_ref": "T",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5549,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 4875,
"cds_start": 2419,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011545030.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2419A>G",
"hgvs_p": "p.Thr807Ala",
"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": "A",
"aa_end": null,
"aa_length": 1600,
"aa_ref": "T",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5679,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 4803,
"cds_start": 2419,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011545031.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2419A>G",
"hgvs_p": "p.Thr807Ala",
"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": "A",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "T",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5427,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 4785,
"cds_start": 2419,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047426948.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2419A>G",
"hgvs_p": "p.Thr807Ala",
"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": "A",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "T",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5443,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 4761,
"cds_start": 2419,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047426949.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2419A>G",
"hgvs_p": "p.Thr807Ala",
"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": "A",
"aa_end": null,
"aa_length": 1556,
"aa_ref": "T",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5313,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 4671,
"cds_start": 2419,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047426950.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.2419A>G",
"hgvs_p": "p.Thr807Ala",
"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": "A",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "T",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 726,
"cds_end": null,
"cds_length": 3219,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017017735.2",
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}