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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: 7-92579357-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92579357&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92579357,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152789.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Gly54Val",
"transcript": "NM_152789.4",
"protein_id": "NP_690002.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 247,
"cds_start": 161,
"cds_end": null,
"cds_length": 744,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": "ENST00000445716.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152789.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Gly54Val",
"transcript": "ENST00000445716.6",
"protein_id": "ENSP00000398401.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 247,
"cds_start": 161,
"cds_end": null,
"cds_length": 744,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": "NM_152789.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445716.6"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.131G>T",
"hgvs_p": "p.Gly44Val",
"transcript": "ENST00000427372.5",
"protein_id": "ENSP00000402843.1",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 237,
"cds_start": 131,
"cds_end": null,
"cds_length": 714,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427372.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.131G>T",
"hgvs_p": "p.Gly44Val",
"transcript": "ENST00000438306.5",
"protein_id": "ENSP00000389783.1",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 237,
"cds_start": 131,
"cds_end": null,
"cds_length": 714,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438306.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Gly54Val",
"transcript": "ENST00000938695.1",
"protein_id": "ENSP00000608754.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 245,
"cds_start": 161,
"cds_end": null,
"cds_length": 738,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938695.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.131G>T",
"hgvs_p": "p.Gly44Val",
"transcript": "NM_001040057.3",
"protein_id": "NP_001035146.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 237,
"cds_start": 131,
"cds_end": null,
"cds_length": 714,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040057.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.131G>T",
"hgvs_p": "p.Gly44Val",
"transcript": "NM_001288584.2",
"protein_id": "NP_001275513.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 237,
"cds_start": 131,
"cds_end": null,
"cds_length": 714,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288584.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Gly54Val",
"transcript": "ENST00000859893.1",
"protein_id": "ENSP00000529952.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 231,
"cds_start": 161,
"cds_end": null,
"cds_length": 696,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859893.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Gly54Val",
"transcript": "ENST00000938698.1",
"protein_id": "ENSP00000608757.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 226,
"cds_start": 161,
"cds_end": null,
"cds_length": 681,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938698.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Gly54Val",
"transcript": "ENST00000958471.1",
"protein_id": "ENSP00000628530.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 216,
"cds_start": 161,
"cds_end": null,
"cds_length": 651,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.25-964G>T",
"hgvs_p": null,
"transcript": "ENST00000938696.1",
"protein_id": "ENSP00000608755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938696.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.25-9442G>T",
"hgvs_p": null,
"transcript": "ENST00000859894.1",
"protein_id": "ENSP00000529953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859894.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "c.24+10911G>T",
"hgvs_p": null,
"transcript": "ENST00000938697.1",
"protein_id": "ENSP00000608756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": null,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "n.161G>T",
"hgvs_p": null,
"transcript": "ENST00000415397.6",
"protein_id": "ENSP00000389559.2",
"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": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415397.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "n.208G>T",
"hgvs_p": null,
"transcript": "ENST00000480397.5",
"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": 410,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480397.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "n.260G>T",
"hgvs_p": null,
"transcript": "ENST00000481407.5",
"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": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481407.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "n.340G>T",
"hgvs_p": null,
"transcript": "ENST00000492686.1",
"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": 455,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492686.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"hgvs_c": "n.260G>T",
"hgvs_p": null,
"transcript": "NR_109929.2",
"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": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109929.2"
}
],
"gene_symbol": "FAM133B",
"gene_hgnc_id": 28629,
"dbsnp": "rs771260417",
"frequency_reference_population": 0.0000055911387,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000274418,
"gnomad_genomes_af": 0.0000328813,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7221214175224304,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.356,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.747,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152789.4",
"gene_symbol": "FAM133B",
"hgnc_id": 28629,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Gly54Val"
}
],
"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
}