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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: 11-65884024-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65884024&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65884024,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198897.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Arg342Gly",
"transcript": "NM_004214.5",
"protein_id": "NP_004205.2",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 357,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357519.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004214.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Arg342Gly",
"transcript": "ENST00000357519.9",
"protein_id": "ENSP00000350124.5",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 357,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004214.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357519.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.1045C>G",
"hgvs_p": "p.Arg349Gly",
"transcript": "ENST00000338369.6",
"protein_id": "ENSP00000344572.2",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 364,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338369.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.1045C>G",
"hgvs_p": "p.Arg349Gly",
"transcript": "NM_198897.2",
"protein_id": "NP_942600.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 364,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198897.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.1030C>G",
"hgvs_p": "p.Arg344Gly",
"transcript": "ENST00000926949.1",
"protein_id": "ENSP00000597008.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 359,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926949.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Arg342Gly",
"transcript": "ENST00000967694.1",
"protein_id": "ENSP00000637753.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 357,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967694.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.1003C>G",
"hgvs_p": "p.Arg335Gly",
"transcript": "ENST00000873727.1",
"protein_id": "ENSP00000543786.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 350,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873727.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.1001C>G",
"hgvs_p": "p.Pro334Arg",
"transcript": "ENST00000533045.5",
"protein_id": "ENSP00000434043.1",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 348,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533045.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "ENST00000926950.1",
"protein_id": "ENSP00000597009.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 348,
"cds_start": 997,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926950.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.970C>G",
"hgvs_p": "p.Arg324Gly",
"transcript": "ENST00000967693.1",
"protein_id": "ENSP00000637752.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 339,
"cds_start": 970,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967693.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "c.724C>G",
"hgvs_p": "p.Arg242Gly",
"transcript": "ENST00000926951.1",
"protein_id": "ENSP00000597010.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 257,
"cds_start": 724,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926951.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "n.507C>G",
"hgvs_p": null,
"transcript": "ENST00000525765.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000525765.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "n.*97C>G",
"hgvs_p": null,
"transcript": "ENST00000531115.5",
"protein_id": "ENSP00000431457.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000531115.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "n.*482C>G",
"hgvs_p": null,
"transcript": "ENST00000533037.5",
"protein_id": "ENSP00000431414.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000533037.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "n.699C>G",
"hgvs_p": null,
"transcript": "ENST00000534032.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000534032.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "n.*97C>G",
"hgvs_p": null,
"transcript": "ENST00000531115.5",
"protein_id": "ENSP00000431457.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000531115.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"hgvs_c": "n.*482C>G",
"hgvs_p": null,
"transcript": "ENST00000533037.5",
"protein_id": "ENSP00000431414.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000533037.5"
}
],
"gene_symbol": "FIBP",
"gene_hgnc_id": 3705,
"dbsnp": "rs751786085",
"frequency_reference_population": 6.842613e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84261e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17088720202445984,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9272,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.247,
"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_198897.2",
"gene_symbol": "FIBP",
"hgnc_id": 3705,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1045C>G",
"hgvs_p": "p.Arg349Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}