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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: 12-118071455-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=118071455&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 118071455,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019086.6",
"consequences": [
{
"aa_ref": "G",
"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": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Gly412Arg",
"transcript": "NM_019086.6",
"protein_id": "NP_061959.2",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 540,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359236.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019086.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"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": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Gly412Arg",
"transcript": "ENST00000359236.10",
"protein_id": "ENSP00000352172.5",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 540,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019086.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359236.10"
},
{
"aa_ref": "G",
"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": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Gly412Arg",
"transcript": "ENST00000965107.1",
"protein_id": "ENSP00000635166.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 539,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965107.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Gly325Arg",
"transcript": "ENST00000965105.1",
"protein_id": "ENSP00000635164.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 453,
"cds_start": 973,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965105.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Gly224Arg",
"transcript": "ENST00000965106.1",
"protein_id": "ENSP00000635165.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 352,
"cds_start": 670,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965106.1"
},
{
"aa_ref": "G",
"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": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Gly412Arg",
"transcript": "XM_011538502.2",
"protein_id": "XP_011536804.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 539,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538502.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Gly412Arg",
"transcript": "XM_047429032.1",
"protein_id": "XP_047284988.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 472,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429032.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Arg",
"transcript": "XM_006719467.3",
"protein_id": "XP_006719530.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 439,
"cds_start": 931,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719467.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Gly240Arg",
"transcript": "XM_005253908.5",
"protein_id": "XP_005253965.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 368,
"cds_start": 718,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253908.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Gly179Arg",
"transcript": "XM_006719468.2",
"protein_id": "XP_006719531.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 307,
"cds_start": 535,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719468.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "n.58G>A",
"hgvs_p": null,
"transcript": "ENST00000545259.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000545259.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "n.1574G>A",
"hgvs_p": null,
"transcript": "XR_002957342.2",
"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": "XR_002957342.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"hgvs_c": "n.1574G>A",
"hgvs_p": null,
"transcript": "XR_002957343.2",
"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": "XR_002957343.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903030",
"gene_hgnc_id": null,
"hgvs_c": "n.222-4719C>T",
"hgvs_p": null,
"transcript": "XR_007063479.1",
"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": "XR_007063479.1"
}
],
"gene_symbol": "VSIG10",
"gene_hgnc_id": 26078,
"dbsnp": "rs1385436988",
"frequency_reference_population": 0.000004957336,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.0000047891,
"gnomad_genomes_af": 0.00000657384,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22174417972564697,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.2974,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.297,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019086.6",
"gene_symbol": "VSIG10",
"hgnc_id": 26078,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Gly412Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007063479.1",
"gene_symbol": "LOC124903030",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.222-4719C>T",
"hgvs_p": null
}
],
"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
}