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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: 11-65884004-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65884004&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FIBP",
"hgnc_id": 3705,
"hgvs_c": "c.1065C>T",
"hgvs_p": "p.Arg355Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_198897.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": 125,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.089,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007131516933441162,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004214.5",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.1044C>T",
"hgvs_p": "p.Arg348Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357519.9",
"protein_coding": true,
"protein_id": "NP_004205.2",
"strand": false,
"transcript": "NM_004214.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000357519.9",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.1044C>T",
"hgvs_p": "p.Arg348Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004214.5",
"protein_coding": true,
"protein_id": "ENSP00000350124.5",
"strand": false,
"transcript": "ENST00000357519.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1261,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1065,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000338369.6",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.1065C>T",
"hgvs_p": "p.Arg355Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344572.2",
"strand": false,
"transcript": "ENST00000338369.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1173,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1047,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000533045.5",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434043.1",
"strand": false,
"transcript": "ENST00000533045.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1065,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_198897.2",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.1065C>T",
"hgvs_p": "p.Arg355Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_942600.1",
"strand": false,
"transcript": "NM_198897.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1391,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1050,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926949.1",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.1050C>T",
"hgvs_p": "p.Arg350Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597008.1",
"strand": false,
"transcript": "ENST00000926949.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1143,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1074,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967694.1",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.1044C>T",
"hgvs_p": "p.Arg348Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637753.1",
"strand": false,
"transcript": "ENST00000967694.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 350,
"aa_ref": "R",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 1053,
"cds_start": 1023,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000873727.1",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.1023C>T",
"hgvs_p": "p.Arg341Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543786.1",
"strand": false,
"transcript": "ENST00000873727.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1302,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1047,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926950.1",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.Arg339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597009.1",
"strand": false,
"transcript": "ENST00000926950.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 339,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1157,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1020,
"cds_start": 990,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967693.1",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.990C>T",
"hgvs_p": "p.Arg330Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637752.1",
"strand": false,
"transcript": "ENST00000967693.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 257,
"aa_ref": "R",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": 824,
"cds_end": null,
"cds_length": 774,
"cds_start": 744,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926951.1",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "c.744C>T",
"hgvs_p": "p.Arg248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597010.1",
"strand": false,
"transcript": "ENST00000926951.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 608,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000525765.5",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "n.527C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000525765.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 609,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531115.5",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "n.*117C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431457.1",
"strand": false,
"transcript": "ENST00000531115.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 982,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000534032.5",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "n.719C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000534032.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 609,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531115.5",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "n.*117C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431457.1",
"strand": false,
"transcript": "ENST00000531115.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1010,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533037.5",
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"hgvs_c": "n.*502C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431414.1",
"strand": true,
"transcript": "ENST00000533037.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200017030",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00007744964,
"gene_hgnc_id": 3705,
"gene_symbol": "FIBP",
"gnomad_exomes_ac": 99,
"gnomad_exomes_af": 0.0000677314,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 26,
"gnomad_genomes_af": 0.00017072,
"gnomad_genomes_homalt": 1,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.236,
"pos": 65884004,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.141,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_198897.2"
}
]
}