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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: 14-65032676-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=65032676&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CHURC1-FNTB",
"hgnc_id": 42960,
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Gly285Gly",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001202559.1",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FNTB",
"hgnc_id": 3785,
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Gly224Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_002028.4",
"verdict": "Likely_benign"
},
{
"benign_score": 8,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MAX",
"hgnc_id": 6913,
"hgvs_c": "c.172-26392G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_197957.4",
"verdict": "Benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "14",
"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": -0.3100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 437,
"aa_ref": "G",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1314,
"cds_start": 672,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002028.4",
"gene_hgnc_id": 3785,
"gene_symbol": "FNTB",
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Gly224Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000246166.3",
"protein_coding": true,
"protein_id": "NP_002019.1",
"strand": true,
"transcript": "NM_002028.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 437,
"aa_ref": "G",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1314,
"cds_start": 672,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000246166.3",
"gene_hgnc_id": 3785,
"gene_symbol": "FNTB",
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Gly224Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002028.4",
"protein_coding": true,
"protein_id": "ENSP00000246166.2",
"strand": true,
"transcript": "ENST00000246166.3",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 471,
"aa_ref": "G",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1416,
"cds_start": 774,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000549987.1",
"gene_hgnc_id": 42960,
"gene_symbol": "CHURC1-FNTB",
"hgvs_c": "c.774C>T",
"hgvs_p": "p.Gly258Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447121.2",
"strand": true,
"transcript": "ENST00000549987.1",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 498,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2894,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1497,
"cds_start": 855,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001202559.1",
"gene_hgnc_id": 42960,
"gene_symbol": "CHURC1-FNTB",
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Gly285Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001189488.1",
"strand": true,
"transcript": "NM_001202559.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 481,
"aa_ref": "G",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1446,
"cds_start": 804,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000916264.1",
"gene_hgnc_id": 3785,
"gene_symbol": "FNTB",
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Gly268Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586323.1",
"strand": true,
"transcript": "ENST00000916264.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 461,
"aa_ref": "G",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1386,
"cds_start": 744,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880245.1",
"gene_hgnc_id": 3785,
"gene_symbol": "FNTB",
"hgvs_c": "c.744C>T",
"hgvs_p": "p.Gly248Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550304.1",
"strand": true,
"transcript": "ENST00000880245.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 436,
"aa_ref": "G",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1311,
"cds_start": 672,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880246.1",
"gene_hgnc_id": 3785,
"gene_symbol": "FNTB",
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Gly224Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550305.1",
"strand": true,
"transcript": "ENST00000880246.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 436,
"aa_ref": "G",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2688,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1311,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947325.1",
"gene_hgnc_id": 3785,
"gene_symbol": "FNTB",
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Gly223Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617384.1",
"strand": true,
"transcript": "ENST00000947325.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 391,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2724,
"cdna_start": 744,
"cds_end": null,
"cds_length": 1176,
"cds_start": 534,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001202558.2",
"gene_hgnc_id": 42960,
"gene_symbol": "CHURC1-FNTB",
"hgvs_c": "c.534C>T",
"hgvs_p": "p.Gly178Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001189487.1",
"strand": true,
"transcript": "NM_001202558.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 408,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": null,
"cds_end": null,
"cds_length": 1227,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916263.1",
"gene_hgnc_id": 3785,
"gene_symbol": "FNTB",
"hgvs_c": "c.605+4895C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586322.1",
"strand": true,
"transcript": "ENST00000916263.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 407,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": null,
"cds_end": null,
"cds_length": 1224,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947324.1",
"gene_hgnc_id": 3785,
"gene_symbol": "FNTB",
"hgvs_c": "c.605+4895C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617383.1",
"strand": true,
"transcript": "ENST00000947324.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 83,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 533,
"cdna_start": null,
"cds_end": null,
"cds_length": 252,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_197957.4",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.172-26392G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_932061.1",
"strand": false,
"transcript": "NM_197957.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 83,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 330,
"cdna_start": null,
"cds_end": null,
"cds_length": 252,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341653.6",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.172-26392G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342482.2",
"strand": false,
"transcript": "ENST00000341653.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 74,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 506,
"cdna_start": null,
"cds_end": null,
"cds_length": 225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271069.2",
"gene_hgnc_id": 6913,
"gene_symbol": "MAX",
"hgvs_c": "c.145-26392G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257998.1",
"strand": false,
"transcript": "NM_001271069.2",
"transcript_support_level": null
},
{
"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": 1847,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000552941.6",
"gene_hgnc_id": 42960,
"gene_symbol": "CHURC1-FNTB",
"hgvs_c": "n.*391C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449668.2",
"strand": true,
"transcript": "ENST00000552941.6",
"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": 2622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000554334.5",
"gene_hgnc_id": 3785,
"gene_symbol": "FNTB",
"hgvs_c": "n.640C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000554334.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 509,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000556709.1",
"gene_hgnc_id": 3785,
"gene_symbol": "FNTB",
"hgvs_c": "n.451C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000556709.1",
"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": 1847,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000552941.6",
"gene_hgnc_id": 42960,
"gene_symbol": "CHURC1-FNTB",
"hgvs_c": "n.*391C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449668.2",
"strand": true,
"transcript": "ENST00000552941.6",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1459855883",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000015491847,
"gene_hgnc_id": 42960,
"gene_symbol": "CHURC1-FNTB",
"gnomad_exomes_ac": 24,
"gnomad_exomes_af": 0.0000164204,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657212,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.165,
"pos": 65032676,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001202559.1"
}
]
}