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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: 3-194617118-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=194617118&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 194617118,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000347147.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"transcript": "NM_001011655.3",
"protein_id": "NP_001011655.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 428,
"cds_start": 764,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": "ENST00000347147.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"transcript": "ENST00000347147.9",
"protein_id": "ENSP00000333355.6",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 428,
"cds_start": 764,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": "NM_001011655.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.905G>T",
"hgvs_p": "p.Arg302Leu",
"transcript": "ENST00000392432.6",
"protein_id": "ENSP00000376227.2",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 475,
"cds_start": 905,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"transcript": "ENST00000473092.5",
"protein_id": "ENSP00000418674.1",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"transcript": "ENST00000381975.7",
"protein_id": "ENSP00000371402.3",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 396,
"cds_start": 764,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.38G>T",
"hgvs_p": "p.Arg13Leu",
"transcript": "ENST00000432352.5",
"protein_id": "ENSP00000409963.1",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 197,
"cds_start": 38,
"cds_end": null,
"cds_length": 594,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "n.528G>T",
"hgvs_p": null,
"transcript": "ENST00000477651.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.905G>T",
"hgvs_p": "p.Arg302Leu",
"transcript": "NM_001166305.2",
"protein_id": "NP_001159777.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 475,
"cds_start": 905,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"transcript": "NM_138399.5",
"protein_id": "NP_612408.3",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"transcript": "NM_001166306.2",
"protein_id": "NP_001159778.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 396,
"cds_start": 764,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "n.616G>T",
"hgvs_p": null,
"transcript": "ENST00000494894.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.310-1448G>T",
"hgvs_p": null,
"transcript": "ENST00000452358.5",
"protein_id": "ENSP00000414333.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "n.304-227G>T",
"hgvs_p": null,
"transcript": "ENST00000419280.5",
"protein_id": "ENSP00000414077.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"dbsnp": "rs369611318",
"frequency_reference_population": 0.0000021458645,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000214586,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16301506757736206,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.7027,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.651,
"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": 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": "ENST00000347147.9",
"gene_symbol": "TMEM44",
"hgnc_id": 25120,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}