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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: 3-122371697-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=122371697&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 122371697,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001017928.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Thr52Ser",
"transcript": "NM_001017928.4",
"protein_id": "NP_001017928.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 144,
"cds_start": 155,
"cds_end": null,
"cds_length": 435,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 720,
"mane_select": "ENST00000291458.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017928.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Thr52Ser",
"transcript": "ENST00000291458.9",
"protein_id": "ENSP00000291458.5",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 144,
"cds_start": 155,
"cds_end": null,
"cds_length": 435,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 720,
"mane_select": "NM_001017928.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291458.9"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Thr52Ser",
"transcript": "ENST00000906686.1",
"protein_id": "ENSP00000576745.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 170,
"cds_start": 155,
"cds_end": null,
"cds_length": 513,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906686.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Thr48Ser",
"transcript": "ENST00000479414.1",
"protein_id": "ENSP00000418810.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 140,
"cds_start": 143,
"cds_end": null,
"cds_length": 423,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479414.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.113C>G",
"hgvs_p": "p.Thr38Ser",
"transcript": "NM_001308326.2",
"protein_id": "NP_001295255.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 130,
"cds_start": 113,
"cds_end": null,
"cds_length": 393,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308326.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.113C>G",
"hgvs_p": "p.Thr38Ser",
"transcript": "ENST00000479899.5",
"protein_id": "ENSP00000420248.1",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 130,
"cds_start": 113,
"cds_end": null,
"cds_length": 393,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479899.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Thr52Ser",
"transcript": "ENST00000906685.1",
"protein_id": "ENSP00000576744.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 124,
"cds_start": 155,
"cds_end": null,
"cds_length": 375,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906685.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Thr52Ser",
"transcript": "ENST00000906687.1",
"protein_id": "ENSP00000576746.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 95,
"cds_start": 155,
"cds_end": null,
"cds_length": 288,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906687.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Thr52Ser",
"transcript": "XM_047447424.1",
"protein_id": "XP_047303380.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 152,
"cds_start": 155,
"cds_end": null,
"cds_length": 459,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447424.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Thr42Ser",
"transcript": "XM_047447425.1",
"protein_id": "XP_047303381.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 142,
"cds_start": 125,
"cds_end": null,
"cds_length": 429,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447425.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.113C>G",
"hgvs_p": "p.Thr38Ser",
"transcript": "XM_047447426.1",
"protein_id": "XP_047303382.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 138,
"cds_start": 113,
"cds_end": null,
"cds_length": 417,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447426.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Thr42Ser",
"transcript": "XM_047447427.1",
"protein_id": "XP_047303383.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 134,
"cds_start": 125,
"cds_end": null,
"cds_length": 405,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447427.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.89C>G",
"hgvs_p": "p.Thr30Ser",
"transcript": "XM_047447428.1",
"protein_id": "XP_047303384.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 130,
"cds_start": 89,
"cds_end": null,
"cds_length": 393,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447428.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Thr52Ser",
"transcript": "XM_017005697.3",
"protein_id": "XP_016861186.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 122,
"cds_start": 155,
"cds_end": null,
"cds_length": 369,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005697.3"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.52-3375C>G",
"hgvs_p": null,
"transcript": "ENST00000920727.1",
"protein_id": "ENSP00000590786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": null,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920727.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.52-3375C>G",
"hgvs_p": null,
"transcript": "ENST00000920728.1",
"protein_id": "ENSP00000590787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": null,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920728.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.52-8670C>G",
"hgvs_p": null,
"transcript": "ENST00000497726.5",
"protein_id": "ENSP00000420769.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 53,
"cds_start": null,
"cds_end": null,
"cds_length": 162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497726.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "c.51+11477C>G",
"hgvs_p": null,
"transcript": "ENST00000920729.1",
"protein_id": "ENSP00000590788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 33,
"cds_start": null,
"cds_end": null,
"cds_length": 102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920729.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"hgvs_c": "n.162C>G",
"hgvs_p": null,
"transcript": "ENST00000498466.1",
"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": 683,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000498466.1"
}
],
"gene_symbol": "MIX23",
"gene_hgnc_id": 31136,
"dbsnp": "rs766471171",
"frequency_reference_population": 0.00008807807,
"hom_count_reference_population": 0,
"allele_count_reference_population": 142,
"gnomad_exomes_af": 0.0000952048,
"gnomad_genomes_af": 0.0000197114,
"gnomad_exomes_ac": 139,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6644818782806396,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.716,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5167,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.548,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001017928.4",
"gene_symbol": "MIX23",
"hgnc_id": 31136,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Thr52Ser"
}
],
"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
}