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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: 1-27369339-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27369339&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27369339,
"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.797G>C",
"hgvs_p": "p.Arg266Pro",
"transcript": "NM_003665.4",
"protein_id": "NP_003656.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 299,
"cds_start": 797,
"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.797G>C",
"hgvs_p": "p.Arg266Pro",
"transcript": "ENST00000270879.9",
"protein_id": "ENSP00000270879.4",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 299,
"cds_start": 797,
"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.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "ENST00000354982.2",
"protein_id": "ENSP00000347077.2",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 288,
"cds_start": 764,
"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.1028G>C",
"hgvs_p": "p.Arg343Pro",
"transcript": "ENST00000859507.1",
"protein_id": "ENSP00000529566.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 376,
"cds_start": 1028,
"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.995G>C",
"hgvs_p": "p.Arg332Pro",
"transcript": "ENST00000859506.1",
"protein_id": "ENSP00000529565.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 365,
"cds_start": 995,
"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.878G>C",
"hgvs_p": "p.Arg293Pro",
"transcript": "ENST00000859504.1",
"protein_id": "ENSP00000529563.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 326,
"cds_start": 878,
"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.845G>C",
"hgvs_p": "p.Arg282Pro",
"transcript": "ENST00000966013.1",
"protein_id": "ENSP00000636072.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 315,
"cds_start": 845,
"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.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000859500.1",
"protein_id": "ENSP00000529559.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 313,
"cds_start": 839,
"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.794G>C",
"hgvs_p": "p.Arg265Pro",
"transcript": "ENST00000859503.1",
"protein_id": "ENSP00000529562.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 298,
"cds_start": 794,
"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.788G>C",
"hgvs_p": "p.Arg263Pro",
"transcript": "ENST00000859498.1",
"protein_id": "ENSP00000529557.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 296,
"cds_start": 788,
"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.788G>C",
"hgvs_p": "p.Arg263Pro",
"transcript": "ENST00000859505.1",
"protein_id": "ENSP00000529564.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 296,
"cds_start": 788,
"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.788G>C",
"hgvs_p": "p.Arg263Pro",
"transcript": "ENST00000966011.1",
"protein_id": "ENSP00000636070.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 296,
"cds_start": 788,
"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.767G>C",
"hgvs_p": "p.Arg256Pro",
"transcript": "ENST00000966014.1",
"protein_id": "ENSP00000636073.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 289,
"cds_start": 767,
"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.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "NM_173452.3",
"protein_id": "NP_775628.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 288,
"cds_start": 764,
"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.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "ENST00000859501.1",
"protein_id": "ENSP00000529560.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 288,
"cds_start": 764,
"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.755G>C",
"hgvs_p": "p.Arg252Pro",
"transcript": "ENST00000859499.1",
"protein_id": "ENSP00000529558.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 285,
"cds_start": 755,
"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.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000966012.1",
"protein_id": "ENSP00000636071.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 284,
"cds_start": 752,
"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.731G>C",
"hgvs_p": "p.Arg244Pro",
"transcript": "ENST00000859502.1",
"protein_id": "ENSP00000529561.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 277,
"cds_start": 731,
"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.719G>C",
"hgvs_p": "p.Arg240Pro",
"transcript": "ENST00000966010.1",
"protein_id": "ENSP00000636069.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 273,
"cds_start": 719,
"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.796G>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": "rs746674895",
"frequency_reference_population": 0.00000656918,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656918,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2215614914894104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.2743,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.324,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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_003665.4",
"gene_symbol": "FCN3",
"hgnc_id": 3625,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.797G>C",
"hgvs_p": "p.Arg266Pro"
}
],
"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
}