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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: 7-19725600-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=19725600&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 19725600,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366625.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.373A>G",
"hgvs_p": "p.Thr125Ala",
"transcript": "NM_001363562.2",
"protein_id": "NP_001350491.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 179,
"cds_start": 373,
"cds_end": null,
"cds_length": 540,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": "ENST00000405844.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363562.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.373A>G",
"hgvs_p": "p.Thr125Ala",
"transcript": "ENST00000405844.6",
"protein_id": "ENSP00000385087.2",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 179,
"cds_start": 373,
"cds_end": null,
"cds_length": 540,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": "NM_001363562.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405844.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.373A>G",
"hgvs_p": "p.Thr125Ala",
"transcript": "ENST00000405764.7",
"protein_id": "ENSP00000384234.3",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 172,
"cds_start": 373,
"cds_end": null,
"cds_length": 519,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405764.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.391A>G",
"hgvs_p": "p.Thr131Ala",
"transcript": "NM_001366625.1",
"protein_id": "NP_001353554.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 185,
"cds_start": 391,
"cds_end": null,
"cds_length": 558,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366625.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.391A>G",
"hgvs_p": "p.Thr131Ala",
"transcript": "NM_001366626.1",
"protein_id": "NP_001353555.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 178,
"cds_start": 391,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366626.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.373A>G",
"hgvs_p": "p.Thr125Ala",
"transcript": "NM_152774.3",
"protein_id": "NP_689987.3",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 172,
"cds_start": 373,
"cds_end": null,
"cds_length": 519,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152774.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Thr57Ala",
"transcript": "NM_001366627.1",
"protein_id": "NP_001353556.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 111,
"cds_start": 169,
"cds_end": null,
"cds_length": 336,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366627.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Thr57Ala",
"transcript": "ENST00000422233.5",
"protein_id": "ENSP00000414247.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 111,
"cds_start": 169,
"cds_end": null,
"cds_length": 336,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422233.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Thr57Ala",
"transcript": "NM_001366628.1",
"protein_id": "NP_001353557.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 104,
"cds_start": 169,
"cds_end": null,
"cds_length": 315,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366628.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Thr57Ala",
"transcript": "ENST00000493519.2",
"protein_id": "ENSP00000438368.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 104,
"cds_start": 169,
"cds_end": null,
"cds_length": 315,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493519.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.391A>G",
"hgvs_p": "p.Thr131Ala",
"transcript": "XM_017011928.3",
"protein_id": "XP_016867417.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 188,
"cds_start": 391,
"cds_end": null,
"cds_length": 567,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011928.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.373A>G",
"hgvs_p": "p.Thr125Ala",
"transcript": "XM_017011929.3",
"protein_id": "XP_016867418.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 182,
"cds_start": 373,
"cds_end": null,
"cds_length": 549,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011929.3"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"hgvs_c": "c.166-1247A>G",
"hgvs_p": null,
"transcript": "ENST00000882494.1",
"protein_id": "ENSP00000552553.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": null,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882494.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107986774",
"gene_hgnc_id": null,
"hgvs_c": "n.1125+2458T>C",
"hgvs_p": null,
"transcript": "XR_001745112.2",
"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": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001745112.2"
}
],
"gene_symbol": "TMEM196",
"gene_hgnc_id": 22431,
"dbsnp": "rs200703464",
"frequency_reference_population": 0.00006567762,
"hom_count_reference_population": 0,
"allele_count_reference_population": 106,
"gnomad_exomes_af": 0.0000690918,
"gnomad_genomes_af": 0.0000328688,
"gnomad_exomes_ac": 101,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7305419445037842,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.595,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8134,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.619,
"phylop100way_prediction": "Pathogenic",
"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": 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_001366625.1",
"gene_symbol": "TMEM196",
"hgnc_id": 22431,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.391A>G",
"hgvs_p": "p.Thr131Ala"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001745112.2",
"gene_symbol": "LOC107986774",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1125+2458T>C",
"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
}