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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: 15-41987366-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41987366&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41987366,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001206670.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "c.1754C>G",
"hgvs_p": "p.Pro585Arg",
"transcript": "NM_001395548.1",
"protein_id": "NP_001382477.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 839,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 4704,
"mane_select": "ENST00000696112.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395548.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "c.1754C>G",
"hgvs_p": "p.Pro585Arg",
"transcript": "ENST00000696112.1",
"protein_id": "ENSP00000512406.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 839,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 4704,
"mane_select": "NM_001395548.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.1130C>G",
"hgvs_p": null,
"transcript": "ENST00000547930.5",
"protein_id": null,
"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": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547930.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E-AS1",
"gene_hgnc_id": 51419,
"hgvs_c": "n.543+5910G>C",
"hgvs_p": null,
"transcript": "ENST00000499478.2",
"protein_id": null,
"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": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000499478.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "c.1841C>G",
"hgvs_p": "p.Pro614Arg",
"transcript": "NM_001206670.1",
"protein_id": "NP_001193599.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 868,
"cds_start": 1841,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206670.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "c.1841C>G",
"hgvs_p": "p.Pro614Arg",
"transcript": "ENST00000399518.3",
"protein_id": "ENSP00000382434.3",
"transcript_support_level": 5,
"aa_start": 614,
"aa_end": null,
"aa_length": 868,
"cds_start": 1841,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 5266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399518.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "c.713C>G",
"hgvs_p": "p.Pro238Arg",
"transcript": "XM_011521238.2",
"protein_id": "XP_011519540.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 492,
"cds_start": 713,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521238.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "c.596C>G",
"hgvs_p": "p.Pro199Arg",
"transcript": "XM_011521239.2",
"protein_id": "XP_011519541.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 453,
"cds_start": 596,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521239.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "c.1827C>G",
"hgvs_p": "p.Ala609Ala",
"transcript": "XM_047432158.1",
"protein_id": "XP_047288114.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 612,
"cds_start": 1827,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.338C>G",
"hgvs_p": null,
"transcript": "ENST00000551073.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 826,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000551073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.*154C>G",
"hgvs_p": null,
"transcript": "ENST00000696114.1",
"protein_id": "ENSP00000512408.1",
"transcript_support_level": null,
"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": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696114.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.*154C>G",
"hgvs_p": null,
"transcript": "ENST00000696115.1",
"protein_id": "ENSP00000512409.1",
"transcript_support_level": null,
"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": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696115.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.*665C>G",
"hgvs_p": null,
"transcript": "ENST00000696116.1",
"protein_id": "ENSP00000512410.1",
"transcript_support_level": null,
"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": 4777,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696116.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.1754C>G",
"hgvs_p": null,
"transcript": "ENST00000696117.1",
"protein_id": "ENSP00000512411.1",
"transcript_support_level": null,
"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": 6058,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696117.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.*943C>G",
"hgvs_p": null,
"transcript": "ENST00000696118.1",
"protein_id": "ENSP00000512412.1",
"transcript_support_level": null,
"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": 6094,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696118.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.*154C>G",
"hgvs_p": null,
"transcript": "ENST00000696114.1",
"protein_id": "ENSP00000512408.1",
"transcript_support_level": null,
"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": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696114.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.*154C>G",
"hgvs_p": null,
"transcript": "ENST00000696115.1",
"protein_id": "ENSP00000512409.1",
"transcript_support_level": null,
"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": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696115.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.*665C>G",
"hgvs_p": null,
"transcript": "ENST00000696116.1",
"protein_id": "ENSP00000512410.1",
"transcript_support_level": null,
"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": 4777,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696116.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"hgvs_c": "n.*943C>G",
"hgvs_p": null,
"transcript": "ENST00000696118.1",
"protein_id": "ENSP00000512412.1",
"transcript_support_level": null,
"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": 6094,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696118.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E-AS1",
"gene_hgnc_id": 51419,
"hgvs_c": "n.445+5910G>C",
"hgvs_p": null,
"transcript": "ENST00000729102.1",
"protein_id": null,
"transcript_support_level": null,
"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": 845,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000729102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLA2G4E-AS1",
"gene_hgnc_id": 51419,
"hgvs_c": "n.543+5910G>C",
"hgvs_p": null,
"transcript": "NR_120334.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_120334.1"
}
],
"gene_symbol": "PLA2G4E",
"gene_hgnc_id": 24791,
"dbsnp": "rs745626061",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6113957166671753,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.212,
"revel_prediction": "Benign",
"alphamissense_score": 0.2196,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.173,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001206670.1",
"gene_symbol": "PLA2G4E",
"hgnc_id": 24791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1841C>G",
"hgvs_p": "p.Pro614Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000499478.2",
"gene_symbol": "PLA2G4E-AS1",
"hgnc_id": 51419,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.543+5910G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}