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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: 11-68426112-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68426112&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68426112,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002335.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Arg1188Trp",
"transcript": "NM_002335.4",
"protein_id": "NP_002326.2",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1615,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294304.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002335.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Arg1188Trp",
"transcript": "ENST00000294304.12",
"protein_id": "ENSP00000294304.6",
"transcript_support_level": 1,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1615,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002335.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294304.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "n.*2168C>T",
"hgvs_p": null,
"transcript": "ENST00000529993.5",
"protein_id": "ENSP00000436652.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529993.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "n.*2168C>T",
"hgvs_p": null,
"transcript": "ENST00000529993.5",
"protein_id": "ENSP00000436652.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529993.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3625C>T",
"hgvs_p": "p.Arg1209Trp",
"transcript": "ENST00000909991.1",
"protein_id": "ENSP00000580050.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1636,
"cds_start": 3625,
"cds_end": null,
"cds_length": 4911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909991.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3583C>T",
"hgvs_p": "p.Arg1195Trp",
"transcript": "ENST00000909989.1",
"protein_id": "ENSP00000580048.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1622,
"cds_start": 3583,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909989.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Arg1188Trp",
"transcript": "ENST00000909993.1",
"protein_id": "ENSP00000580052.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1614,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909993.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Arg1188Trp",
"transcript": "ENST00000909994.1",
"protein_id": "ENSP00000580053.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1578,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909994.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3364C>T",
"hgvs_p": "p.Arg1122Trp",
"transcript": "ENST00000909990.1",
"protein_id": "ENSP00000580049.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1549,
"cds_start": 3364,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909990.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3364C>T",
"hgvs_p": "p.Arg1122Trp",
"transcript": "ENST00000921489.1",
"protein_id": "ENSP00000591548.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3364,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921489.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Arg1188Trp",
"transcript": "ENST00000909992.1",
"protein_id": "ENSP00000580051.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1536,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909992.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.2638C>T",
"hgvs_p": "p.Arg880Trp",
"transcript": "ENST00000921488.1",
"protein_id": "ENSP00000591547.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1307,
"cds_start": 2638,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921488.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "NM_001291902.2",
"protein_id": "NP_001278831.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291902.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Trp",
"transcript": "XM_011545029.2",
"protein_id": "XP_011543331.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1662,
"cds_start": 3589,
"cds_end": null,
"cds_length": 4989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545029.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Arg1188Trp",
"transcript": "XM_005273994.3",
"protein_id": "XP_005274051.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1653,
"cds_start": 3562,
"cds_end": null,
"cds_length": 4962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273994.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Trp",
"transcript": "XM_011545030.2",
"protein_id": "XP_011543332.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1624,
"cds_start": 3589,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545030.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Trp",
"transcript": "XM_011545031.2",
"protein_id": "XP_011543333.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1600,
"cds_start": 3589,
"cds_end": null,
"cds_length": 4803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545031.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Trp",
"transcript": "XM_047426948.1",
"protein_id": "XP_047282904.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1594,
"cds_start": 3589,
"cds_end": null,
"cds_length": 4785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426948.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Trp",
"transcript": "XM_047426949.1",
"protein_id": "XP_047282905.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1586,
"cds_start": 3589,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426949.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Trp",
"transcript": "XM_047426950.1",
"protein_id": "XP_047282906.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1556,
"cds_start": 3589,
"cds_end": null,
"cds_length": 4671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426950.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Arg607Trp",
"transcript": "XM_017017735.2",
"protein_id": "XP_016873224.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1072,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017735.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Trp",
"transcript": "XM_017017736.2",
"protein_id": "XP_016873225.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 833,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017736.2"
}
],
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"dbsnp": "rs141178995",
"frequency_reference_population": 0.000014877392,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000143741,
"gnomad_genomes_af": 0.0000197083,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8761545419692993,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.898,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7667,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.437,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_002335.4",
"gene_symbol": "LRP5",
"hgnc_id": 6697,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD,Unknown",
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Arg1188Trp"
}
],
"clinvar_disease": "6 conditions,Polycystic liver disease 1,Polycystic liver disease 4 with or without kidney cysts,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2 O:1",
"phenotype_combined": "Polycystic liver disease 1|Polycystic liver disease 4 with or without kidney cysts|not provided|6 conditions",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}