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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: 4-165333401-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=165333401&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 165333401,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006745.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "NM_006745.5",
"protein_id": "NP_006736.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 31,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261507.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006745.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000261507.11",
"protein_id": "ENSP00000261507.6",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 31,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006745.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261507.11"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000504317.1",
"protein_id": "ENSP00000423633.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 229,
"cds_start": 31,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504317.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "NM_001440534.1",
"protein_id": "NP_001427463.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 31,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440534.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000906532.1",
"protein_id": "ENSP00000576591.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 31,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906532.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000906533.1",
"protein_id": "ENSP00000576592.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 31,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906533.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000906534.1",
"protein_id": "ENSP00000576593.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 31,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906534.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000936200.1",
"protein_id": "ENSP00000606259.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 31,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936200.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000963503.1",
"protein_id": "ENSP00000633562.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 31,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963503.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000963504.1",
"protein_id": "ENSP00000633563.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 31,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963504.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000963505.1",
"protein_id": "ENSP00000633564.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 31,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963505.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000507013.5",
"protein_id": "ENSP00000425241.1",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 219,
"cds_start": 31,
"cds_end": null,
"cds_length": 662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507013.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000906531.1",
"protein_id": "ENSP00000576590.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 201,
"cds_start": 31,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906531.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg",
"transcript": "ENST00000505270.1",
"protein_id": "ENSP00000425112.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 84,
"cds_start": 31,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505270.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.-138-4388A>C",
"hgvs_p": null,
"transcript": "NM_001017369.3",
"protein_id": "NP_001017369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017369.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"hgvs_c": "c.-138-4388A>C",
"hgvs_p": null,
"transcript": "ENST00000393766.6",
"protein_id": "ENSP00000377361.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393766.6"
}
],
"gene_symbol": "MSMO1",
"gene_hgnc_id": 10545,
"dbsnp": "rs1024578593",
"frequency_reference_population": 0.0000031019024,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000137017,
"gnomad_genomes_af": 0.0000197055,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15706375241279602,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.3182,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.922,
"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": "NM_006745.5",
"gene_symbol": "MSMO1",
"hgnc_id": 10545,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.31A>C",
"hgvs_p": "p.Ser11Arg"
}
],
"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
}