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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: 6-168598828-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=168598828&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 168598828,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_022138.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.648T>A",
"hgvs_p": "p.Cys216*",
"transcript": "NM_001166412.2",
"protein_id": "NP_001159884.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 446,
"cds_start": 648,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356284.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166412.2"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.648T>A",
"hgvs_p": "p.Cys216*",
"transcript": "ENST00000356284.7",
"protein_id": "ENSP00000348630.3",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 446,
"cds_start": 648,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001166412.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356284.7"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.681T>A",
"hgvs_p": "p.Cys227*",
"transcript": "ENST00000354536.9",
"protein_id": "ENSP00000346537.5",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 457,
"cds_start": 681,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354536.9"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.702T>A",
"hgvs_p": "p.Cys234*",
"transcript": "ENST00000960304.1",
"protein_id": "ENSP00000630363.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 464,
"cds_start": 702,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960304.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.681T>A",
"hgvs_p": "p.Cys227*",
"transcript": "NM_022138.3",
"protein_id": "NP_071421.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 457,
"cds_start": 681,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022138.3"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.681T>A",
"hgvs_p": "p.Cys227*",
"transcript": "ENST00000960301.1",
"protein_id": "ENSP00000630360.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 457,
"cds_start": 681,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960301.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.669T>A",
"hgvs_p": "p.Cys223*",
"transcript": "ENST00000908186.1",
"protein_id": "ENSP00000578245.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 453,
"cds_start": 669,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908186.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.648T>A",
"hgvs_p": "p.Cys216*",
"transcript": "ENST00000960302.1",
"protein_id": "ENSP00000630361.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 446,
"cds_start": 648,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960302.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.648T>A",
"hgvs_p": "p.Cys216*",
"transcript": "ENST00000908188.1",
"protein_id": "ENSP00000578247.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 430,
"cds_start": 648,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908188.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.597T>A",
"hgvs_p": "p.Cys199*",
"transcript": "ENST00000908189.1",
"protein_id": "ENSP00000578248.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 429,
"cds_start": 597,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908189.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.576T>A",
"hgvs_p": "p.Cys192*",
"transcript": "ENST00000908193.1",
"protein_id": "ENSP00000578252.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 422,
"cds_start": 576,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908193.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.474T>A",
"hgvs_p": "p.Cys158*",
"transcript": "ENST00000908190.1",
"protein_id": "ENSP00000578249.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 388,
"cds_start": 474,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908190.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.441T>A",
"hgvs_p": "p.Cys147*",
"transcript": "ENST00000960303.1",
"protein_id": "ENSP00000630362.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 377,
"cds_start": 441,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960303.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.648T>A",
"hgvs_p": "p.Cys216*",
"transcript": "ENST00000908191.1",
"protein_id": "ENSP00000578250.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 320,
"cds_start": 648,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908191.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.267T>A",
"hgvs_p": "p.Cys89*",
"transcript": "ENST00000908187.1",
"protein_id": "ENSP00000578246.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 319,
"cds_start": 267,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908187.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.681T>A",
"hgvs_p": "p.Cys227*",
"transcript": "XM_011536065.2",
"protein_id": "XP_011534367.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 475,
"cds_start": 681,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536065.2"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.648T>A",
"hgvs_p": "p.Cys216*",
"transcript": "XM_011536066.2",
"protein_id": "XP_011534368.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 464,
"cds_start": 648,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536066.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"hgvs_c": "c.637+49625T>A",
"hgvs_p": null,
"transcript": "ENST00000908192.1",
"protein_id": "ENSP00000578251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908192.1"
}
],
"gene_symbol": "SMOC2",
"gene_hgnc_id": 20323,
"dbsnp": "rs875989843",
"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": 0.5799999833106995,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.558,
"phylop100way_prediction": "Benign",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_022138.3",
"gene_symbol": "SMOC2",
"hgnc_id": 20323,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.681T>A",
"hgvs_p": "p.Cys227*"
}
],
"clinvar_disease": " TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,DENTIN DYSPLASIA",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}