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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: 2-36857933-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=36857933&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 36857933,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003162.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1760G>C",
"hgvs_p": "p.Cys587Ser",
"transcript": "NM_003162.4",
"protein_id": "NP_003153.2",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 780,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263918.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003162.4"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1760G>C",
"hgvs_p": "p.Cys587Ser",
"transcript": "ENST00000263918.9",
"protein_id": "ENSP00000263918.4",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 780,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003162.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263918.9"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1904G>C",
"hgvs_p": "p.Cys635Ser",
"transcript": "ENST00000950120.1",
"protein_id": "ENSP00000620179.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 828,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950120.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1847G>C",
"hgvs_p": "p.Cys616Ser",
"transcript": "ENST00000874612.1",
"protein_id": "ENSP00000544671.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 809,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874612.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1760G>C",
"hgvs_p": "p.Cys587Ser",
"transcript": "ENST00000927774.1",
"protein_id": "ENSP00000597833.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 779,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927774.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1703G>C",
"hgvs_p": "p.Cys568Ser",
"transcript": "ENST00000950119.1",
"protein_id": "ENSP00000620178.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 761,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950119.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1649G>C",
"hgvs_p": "p.Cys550Ser",
"transcript": "ENST00000874611.1",
"protein_id": "ENSP00000544670.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 743,
"cds_start": 1649,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874611.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1649G>C",
"hgvs_p": "p.Cys550Ser",
"transcript": "ENST00000950122.1",
"protein_id": "ENSP00000620181.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 743,
"cds_start": 1649,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950122.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1505G>C",
"hgvs_p": "p.Cys502Ser",
"transcript": "ENST00000950121.1",
"protein_id": "ENSP00000620180.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 695,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950121.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1847G>C",
"hgvs_p": "p.Cys616Ser",
"transcript": "XM_011533073.3",
"protein_id": "XP_011531375.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 809,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533073.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"hgvs_c": "c.1649G>C",
"hgvs_p": "p.Cys550Ser",
"transcript": "XM_005264519.6",
"protein_id": "XP_005264576.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 743,
"cds_start": 1649,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264519.6"
}
],
"gene_symbol": "STRN",
"gene_hgnc_id": 11424,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6684299111366272,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.289,
"revel_prediction": "Benign",
"alphamissense_score": 0.3394,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.555,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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_003162.4",
"gene_symbol": "STRN",
"hgnc_id": 11424,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1760G>C",
"hgvs_p": "p.Cys587Ser"
}
],
"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
}