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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: 3-69196303-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69196303&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69196303,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000398540.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1186A>C",
"hgvs_p": "p.Thr396Pro",
"transcript": "NM_015123.3",
"protein_id": "NP_055938.2",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1186,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": "ENST00000398540.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1186A>C",
"hgvs_p": "p.Thr396Pro",
"transcript": "ENST00000398540.8",
"protein_id": "ENSP00000381549.3",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1186,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": "NM_015123.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Thr48Pro",
"transcript": "ENST00000478263.5",
"protein_id": "ENSP00000418682.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 686,
"cds_start": 142,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.319A>C",
"hgvs_p": "p.Thr107Pro",
"transcript": "ENST00000462512.1",
"protein_id": "ENSP00000419869.1",
"transcript_support_level": 4,
"aa_start": 107,
"aa_end": null,
"aa_length": 160,
"cds_start": 319,
"cds_end": null,
"cds_length": 483,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1186A>C",
"hgvs_p": "p.Thr396Pro",
"transcript": "XM_017005989.2",
"protein_id": "XP_016861478.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1186,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1051A>C",
"hgvs_p": "p.Thr351Pro",
"transcript": "XM_017005990.2",
"protein_id": "XP_016861479.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1051,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1024A>C",
"hgvs_p": "p.Thr342Pro",
"transcript": "XM_017005991.2",
"protein_id": "XP_016861480.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 6365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1024A>C",
"hgvs_p": "p.Thr342Pro",
"transcript": "XM_017005992.2",
"protein_id": "XP_016861481.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1024A>C",
"hgvs_p": "p.Thr342Pro",
"transcript": "XM_047447767.1",
"protein_id": "XP_047303723.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 6623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1024A>C",
"hgvs_p": "p.Thr342Pro",
"transcript": "XM_047447768.1",
"protein_id": "XP_047303724.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1024,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 8047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1051A>C",
"hgvs_p": "p.Thr351Pro",
"transcript": "XM_005264722.2",
"protein_id": "XP_005264779.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 989,
"cds_start": 1051,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1024A>C",
"hgvs_p": "p.Thr342Pro",
"transcript": "XM_017005993.2",
"protein_id": "XP_016861482.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 980,
"cds_start": 1024,
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"cds_length": 2943,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 6531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1024A>C",
"hgvs_p": "p.Thr342Pro",
"transcript": "XM_017005994.2",
"protein_id": "XP_016861483.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 980,
"cds_start": 1024,
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"cdna_start": 2954,
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"cdna_length": 7952,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1024A>C",
"hgvs_p": "p.Thr342Pro",
"transcript": "XM_047447769.1",
"protein_id": "XP_047303725.1",
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"aa_start": 342,
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"cdna_start": 1275,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1024A>C",
"hgvs_p": "p.Thr342Pro",
"transcript": "XM_047447770.1",
"protein_id": "XP_047303726.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 980,
"cds_start": 1024,
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"cdna_start": 2281,
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"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
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"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.1024A>C",
"hgvs_p": "p.Thr342Pro",
"transcript": "XM_047447771.1",
"protein_id": "XP_047303727.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Thr151Pro",
"transcript": "XM_017005995.2",
"protein_id": "XP_016861484.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 818,
"cds_start": 451,
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"cds_length": 2457,
"cdna_start": 695,
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"cdna_length": 5785,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Thr151Pro",
"transcript": "XM_047447772.1",
"protein_id": "XP_047303728.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 818,
"cds_start": 451,
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"cdna_start": 726,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.319A>C",
"hgvs_p": "p.Thr107Pro",
"transcript": "XM_017005996.2",
"protein_id": "XP_016861485.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.319A>C",
"hgvs_p": "p.Thr107Pro",
"transcript": "XM_047447773.1",
"protein_id": "XP_047303729.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Thr48Pro",
"transcript": "XM_017005997.2",
"protein_id": "XP_016861486.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 715,
"cds_start": 142,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 449,
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"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"dbsnp": "rs9310141",
"frequency_reference_population": 0.0000013721562,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137216,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12214681506156921,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.231,
"revel_prediction": "Benign",
"alphamissense_score": 0.0798,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.72,
"phylop100way_prediction": "Benign",
"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": 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": "ENST00000398540.8",
"gene_symbol": "FRMD4B",
"hgnc_id": 24886,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1186A>C",
"hgvs_p": "p.Thr396Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}