← Back to variant description
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: 1-27369357-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27369357&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27369357,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003665.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "NM_003665.4",
"protein_id": "NP_003656.2",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 299,
"cds_start": 779,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270879.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003665.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "ENST00000270879.9",
"protein_id": "ENSP00000270879.4",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 299,
"cds_start": 779,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003665.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270879.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Arg249Pro",
"transcript": "ENST00000354982.2",
"protein_id": "ENSP00000347077.2",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 288,
"cds_start": 746,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354982.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.1010G>C",
"hgvs_p": "p.Arg337Pro",
"transcript": "ENST00000859507.1",
"protein_id": "ENSP00000529566.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 376,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859507.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.977G>C",
"hgvs_p": "p.Arg326Pro",
"transcript": "ENST00000859506.1",
"protein_id": "ENSP00000529565.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 365,
"cds_start": 977,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859506.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Arg287Pro",
"transcript": "ENST00000859504.1",
"protein_id": "ENSP00000529563.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 326,
"cds_start": 860,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859504.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Arg276Pro",
"transcript": "ENST00000966013.1",
"protein_id": "ENSP00000636072.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 315,
"cds_start": 827,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966013.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.821G>C",
"hgvs_p": "p.Arg274Pro",
"transcript": "ENST00000859500.1",
"protein_id": "ENSP00000529559.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 313,
"cds_start": 821,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859500.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.776G>C",
"hgvs_p": "p.Arg259Pro",
"transcript": "ENST00000859503.1",
"protein_id": "ENSP00000529562.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 298,
"cds_start": 776,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859503.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro",
"transcript": "ENST00000859498.1",
"protein_id": "ENSP00000529557.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 296,
"cds_start": 770,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859498.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro",
"transcript": "ENST00000859505.1",
"protein_id": "ENSP00000529564.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 296,
"cds_start": 770,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859505.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro",
"transcript": "ENST00000966011.1",
"protein_id": "ENSP00000636070.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 296,
"cds_start": 770,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966011.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.749G>C",
"hgvs_p": "p.Arg250Pro",
"transcript": "ENST00000966014.1",
"protein_id": "ENSP00000636073.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 289,
"cds_start": 749,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966014.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Arg249Pro",
"transcript": "NM_173452.3",
"protein_id": "NP_775628.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 288,
"cds_start": 746,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173452.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Arg249Pro",
"transcript": "ENST00000859501.1",
"protein_id": "ENSP00000529560.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 288,
"cds_start": 746,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859501.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.737G>C",
"hgvs_p": "p.Arg246Pro",
"transcript": "ENST00000859499.1",
"protein_id": "ENSP00000529558.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 737,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859499.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.734G>C",
"hgvs_p": "p.Arg245Pro",
"transcript": "ENST00000966012.1",
"protein_id": "ENSP00000636071.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 284,
"cds_start": 734,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966012.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Arg238Pro",
"transcript": "ENST00000859502.1",
"protein_id": "ENSP00000529561.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 277,
"cds_start": 713,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859502.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "c.701G>C",
"hgvs_p": "p.Arg234Pro",
"transcript": "ENST00000966010.1",
"protein_id": "ENSP00000636069.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 273,
"cds_start": 701,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"hgvs_c": "n.778G>C",
"hgvs_p": null,
"transcript": "ENST00000699962.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000699962.1"
}
],
"gene_symbol": "FCN3",
"gene_hgnc_id": 3625,
"dbsnp": "rs143244488",
"frequency_reference_population": 0.000077441575,
"hom_count_reference_population": 0,
"allele_count_reference_population": 125,
"gnomad_exomes_af": 0.0000725093,
"gnomad_genomes_af": 0.000124805,
"gnomad_exomes_ac": 106,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017166495323181152,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.352,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5366,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.98,
"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": -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": "NM_003665.4",
"gene_symbol": "FCN3",
"hgnc_id": 3625,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro"
}
],
"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
}