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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: 3-192335434-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=192335434&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 192335434,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000445105.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52His",
"transcript": "NM_004113.6",
"protein_id": "NP_004104.3",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 181,
"cds_start": 155,
"cds_end": null,
"cds_length": 546,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 5353,
"mane_select": "ENST00000445105.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52His",
"transcript": "ENST00000445105.7",
"protein_id": "ENSP00000393686.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 181,
"cds_start": 155,
"cds_end": null,
"cds_length": 546,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 5353,
"mane_select": "NM_004113.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114His",
"transcript": "ENST00000454309.7",
"protein_id": "ENSP00000413496.2",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 243,
"cds_start": 341,
"cds_end": null,
"cds_length": 732,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 6725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114His",
"transcript": "NM_021032.5",
"protein_id": "NP_066360.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 243,
"cds_start": 341,
"cds_end": null,
"cds_length": 732,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 6725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52His",
"transcript": "ENST00000450716.5",
"protein_id": "ENSP00000397635.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 181,
"cds_start": 155,
"cds_end": null,
"cds_length": 546,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52His",
"transcript": "ENST00000683451.2",
"protein_id": "ENSP00000508366.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 181,
"cds_start": 155,
"cds_end": null,
"cds_length": 546,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52His",
"transcript": "ENST00000683935.1",
"protein_id": "ENSP00000507098.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 181,
"cds_start": 155,
"cds_end": null,
"cds_length": 546,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28His",
"transcript": "NM_001377293.1",
"protein_id": "NP_001364222.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 157,
"cds_start": 83,
"cds_end": null,
"cds_length": 474,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 5210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28His",
"transcript": "NM_001377294.1",
"protein_id": "NP_001364223.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 157,
"cds_start": 83,
"cds_end": null,
"cds_length": 474,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28His",
"transcript": "ENST00000684282.1",
"protein_id": "ENSP00000507149.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 157,
"cds_start": 83,
"cds_end": null,
"cds_length": 474,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28His",
"transcript": "ENST00000684728.1",
"protein_id": "ENSP00000506839.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 157,
"cds_start": 83,
"cds_end": null,
"cds_length": 474,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.44G>A",
"hgvs_p": "p.Arg15His",
"transcript": "NM_001377292.1",
"protein_id": "NP_001364221.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 144,
"cds_start": 44,
"cds_end": null,
"cds_length": 435,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 5242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.44G>A",
"hgvs_p": "p.Arg15His",
"transcript": "ENST00000430714.5",
"protein_id": "ENSP00000410125.1",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 144,
"cds_start": 44,
"cds_end": null,
"cds_length": 435,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28His",
"transcript": "ENST00000448795.5",
"protein_id": "ENSP00000412904.1",
"transcript_support_level": 4,
"aa_start": 28,
"aa_end": null,
"aa_length": 140,
"cds_start": 83,
"cds_end": null,
"cds_length": 423,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52His",
"transcript": "ENST00000418610.1",
"protein_id": "ENSP00000395517.1",
"transcript_support_level": 4,
"aa_start": 52,
"aa_end": null,
"aa_length": 106,
"cds_start": 155,
"cds_end": null,
"cds_length": 321,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "XM_005247227.3",
"protein_id": "XP_005247284.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 207,
"cds_start": 233,
"cds_end": null,
"cds_length": 624,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"transcript": "XM_006713538.4",
"protein_id": "XP_006713601.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 178,
"cds_start": 146,
"cds_end": null,
"cds_length": 537,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 5243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "n.343G>A",
"hgvs_p": null,
"transcript": "ENST00000682572.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"hgvs_c": "n.408G>A",
"hgvs_p": null,
"transcript": "ENST00000682819.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGF12",
"gene_hgnc_id": 3668,
"dbsnp": "rs886039903",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8482723236083984,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.548,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9973,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000445105.7",
"gene_symbol": "FGF12",
"hgnc_id": 3668,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Arg52His"
}
],
"clinvar_disease": " 47,Developmental and epileptic encephalopathy,Early onset epileptic encephalopathy,Seizure,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:13 O:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 47|Early onset epileptic encephalopathy|not provided|Seizure",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}