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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: 2-119446866-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=119446866&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 119446866,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002980.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1033C>G",
"hgvs_p": "p.Leu345Val",
"transcript": "NM_002980.3",
"protein_id": "NP_002971.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 440,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": "ENST00000019103.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002980.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1033C>G",
"hgvs_p": "p.Leu345Val",
"transcript": "ENST00000019103.8",
"protein_id": "ENSP00000019103.6",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 440,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": "NM_002980.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000019103.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1228C>G",
"hgvs_p": "p.Leu410Val",
"transcript": "ENST00000903274.1",
"protein_id": "ENSP00000573333.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 505,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903274.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1048C>G",
"hgvs_p": "p.Leu350Val",
"transcript": "ENST00000903275.1",
"protein_id": "ENSP00000573334.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 445,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903275.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1048C>G",
"hgvs_p": "p.Leu350Val",
"transcript": "ENST00000971075.1",
"protein_id": "ENSP00000641134.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 443,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971075.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1033C>G",
"hgvs_p": "p.Leu345Val",
"transcript": "ENST00000903273.1",
"protein_id": "ENSP00000573332.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 438,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903273.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.925C>G",
"hgvs_p": "p.Leu309Val",
"transcript": "ENST00000971074.1",
"protein_id": "ENSP00000641133.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 404,
"cds_start": 925,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971074.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.871C>G",
"hgvs_p": "p.Leu291Val",
"transcript": "ENST00000971073.1",
"protein_id": "ENSP00000641132.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 386,
"cds_start": 871,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971073.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1048C>G",
"hgvs_p": "p.Leu350Val",
"transcript": "XM_047445399.1",
"protein_id": "XP_047301355.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 450,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445399.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1048C>G",
"hgvs_p": "p.Leu350Val",
"transcript": "XM_011511621.3",
"protein_id": "XP_011509923.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 445,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511621.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1033C>G",
"hgvs_p": "p.Leu345Val",
"transcript": "XM_047445400.1",
"protein_id": "XP_047301356.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 445,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445400.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1018C>G",
"hgvs_p": "p.Leu340Val",
"transcript": "XM_017004670.2",
"protein_id": "XP_016860159.2",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 440,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004670.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Leu314Val",
"transcript": "XM_047445401.1",
"protein_id": "XP_047301357.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 414,
"cds_start": 940,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445401.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Leu292Val",
"transcript": "XM_047445402.1",
"protein_id": "XP_047301358.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 392,
"cds_start": 874,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 3620,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445402.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.844C>G",
"hgvs_p": "p.Leu282Val",
"transcript": "XM_047445403.1",
"protein_id": "XP_047301359.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 382,
"cds_start": 844,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445403.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.514C>G",
"hgvs_p": "p.Leu172Val",
"transcript": "XM_047445404.1",
"protein_id": "XP_047301360.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 272,
"cds_start": 514,
"cds_end": null,
"cds_length": 819,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445404.1"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.921+5144C>G",
"hgvs_p": null,
"transcript": "ENST00000903276.1",
"protein_id": "ENSP00000573335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": null,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903276.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "n.1713C>G",
"hgvs_p": null,
"transcript": "ENST00000485440.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485440.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "n.1220C>G",
"hgvs_p": null,
"transcript": "XR_922984.3",
"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": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_922984.3"
}
],
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"dbsnp": "rs371863937",
"frequency_reference_population": 0.00012742638,
"hom_count_reference_population": 0,
"allele_count_reference_population": 199,
"gnomad_exomes_af": 0.000126997,
"gnomad_genomes_af": 0.000131403,
"gnomad_exomes_ac": 179,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.829453706741333,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.381,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2296,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.551,
"phylop100way_prediction": "Uncertain_significance",
"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": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002980.3",
"gene_symbol": "SCTR",
"hgnc_id": 10608,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1033C>G",
"hgvs_p": "p.Leu345Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}