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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: 1-246621552-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=246621552&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 246621552,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000366513.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg",
"transcript": "NM_152609.3",
"protein_id": "NP_689822.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 725,
"cds_start": 503,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": "ENST00000366513.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg",
"transcript": "ENST00000366513.9",
"protein_id": "ENSP00000355470.4",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 725,
"cds_start": 503,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": "NM_152609.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg",
"transcript": "ENST00000366512.7",
"protein_id": "ENSP00000355469.3",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 616,
"cds_start": 503,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg",
"transcript": "NM_001139459.2",
"protein_id": "NP_001132931.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 616,
"cds_start": 503,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.671T>G",
"hgvs_p": "p.Leu224Arg",
"transcript": "XM_005273081.4",
"protein_id": "XP_005273138.3",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 781,
"cds_start": 671,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 5041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg",
"transcript": "XM_011544110.4",
"protein_id": "XP_011542412.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 725,
"cds_start": 503,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg",
"transcript": "XM_011544111.2",
"protein_id": "XP_011542413.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 725,
"cds_start": 503,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg",
"transcript": "XM_047447903.1",
"protein_id": "XP_047303859.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 725,
"cds_start": 503,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.137T>G",
"hgvs_p": "p.Leu46Arg",
"transcript": "XM_047447906.1",
"protein_id": "XP_047303862.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 603,
"cds_start": 137,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.95T>G",
"hgvs_p": "p.Leu32Arg",
"transcript": "XM_011544112.2",
"protein_id": "XP_011542414.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 589,
"cds_start": 95,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.31T>G",
"hgvs_p": "p.Leu11Val",
"transcript": "XM_011544114.3",
"protein_id": "XP_011542416.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 551,
"cds_start": 31,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 125,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.671T>G",
"hgvs_p": "p.Leu224Arg",
"transcript": "XM_047447913.1",
"protein_id": "XP_047303869.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 398,
"cds_start": 671,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "n.774T>G",
"hgvs_p": null,
"transcript": "ENST00000483271.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.380-10342T>G",
"hgvs_p": null,
"transcript": "ENST00000366511.1",
"protein_id": "ENSP00000355468.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": -4,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"hgvs_c": "c.91-10342T>G",
"hgvs_p": null,
"transcript": "XM_047447910.1",
"protein_id": "XP_047303866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": -4,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNST",
"gene_hgnc_id": 26486,
"dbsnp": "rs532230816",
"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": 0.06611543893814087,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.0613,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.057,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000366513.9",
"gene_symbol": "CNST",
"hgnc_id": 26486,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.503T>G",
"hgvs_p": "p.Leu168Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}