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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: 8-23360143-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=23360143&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 23360143,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002318.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "NM_002318.3",
"protein_id": "NP_002309.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 774,
"cds_start": 478,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389131.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002318.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "ENST00000389131.8",
"protein_id": "ENSP00000373783.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 774,
"cds_start": 478,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002318.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389131.8"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOXL2-AS1",
"gene_hgnc_id": 56648,
"hgvs_c": "n.1375-2983C>A",
"hgvs_p": null,
"transcript": "ENST00000519692.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000519692.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "ENST00000879573.1",
"protein_id": "ENSP00000549632.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 780,
"cds_start": 478,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879573.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "ENST00000879572.1",
"protein_id": "ENSP00000549631.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 774,
"cds_start": 478,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879572.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "ENST00000879574.1",
"protein_id": "ENSP00000549633.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 774,
"cds_start": 478,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879574.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "ENST00000879576.1",
"protein_id": "ENSP00000549635.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 774,
"cds_start": 478,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879576.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "ENST00000924129.1",
"protein_id": "ENSP00000594188.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 774,
"cds_start": 478,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924129.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "ENST00000969380.1",
"protein_id": "ENSP00000639439.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 774,
"cds_start": 478,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969380.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "ENST00000969381.1",
"protein_id": "ENSP00000639440.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 774,
"cds_start": 478,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969381.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "ENST00000924130.1",
"protein_id": "ENSP00000594189.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 750,
"cds_start": 478,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924130.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr",
"transcript": "ENST00000879575.1",
"protein_id": "ENSP00000549634.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 718,
"cds_start": 478,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879575.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Asp241Tyr",
"transcript": "ENST00000524144.5",
"protein_id": "ENSP00000427883.1",
"transcript_support_level": 5,
"aa_start": 241,
"aa_end": null,
"aa_length": 257,
"cds_start": 721,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524144.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.601G>T",
"hgvs_p": "p.Asp201Tyr",
"transcript": "ENST00000520871.1",
"protein_id": "ENSP00000429778.1",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 217,
"cds_start": 601,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.175+8034G>T",
"hgvs_p": null,
"transcript": "ENST00000523833.2",
"protein_id": "ENSP00000473322.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523833.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOXL2-AS1",
"gene_hgnc_id": 56648,
"hgvs_c": "n.1375-2983C>A",
"hgvs_p": null,
"transcript": "NR_038323.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_038323.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.*23G>T",
"hgvs_p": null,
"transcript": "ENST00000518083.5",
"protein_id": "ENSP00000430519.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518083.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"hgvs_c": "c.*61G>T",
"hgvs_p": null,
"transcript": "ENST00000524168.1",
"protein_id": "ENSP00000428497.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524168.1"
}
],
"gene_symbol": "LOXL2",
"gene_hgnc_id": 6666,
"dbsnp": "rs3736019",
"frequency_reference_population": 6.846164e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84616e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39467406272888184,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.2353,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.155,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002318.3",
"gene_symbol": "LOXL2",
"hgnc_id": 6666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Asp160Tyr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000519692.1",
"gene_symbol": "LOXL2-AS1",
"hgnc_id": 56648,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1375-2983C>A",
"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
}