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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: 17-28367882-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28367882&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28367882,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000638.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.1157G>C",
"hgvs_p": "p.Ser386Thr",
"transcript": "NM_000638.4",
"protein_id": "NP_000629.3",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 478,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000226218.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000638.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.1157G>C",
"hgvs_p": "p.Ser386Thr",
"transcript": "ENST00000226218.9",
"protein_id": "ENSP00000226218.4",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 478,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000638.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226218.9"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273171",
"gene_hgnc_id": null,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Ser44Thr",
"transcript": "ENST00000555059.2",
"protein_id": "ENSP00000452347.3",
"transcript_support_level": 4,
"aa_start": 44,
"aa_end": null,
"aa_length": 148,
"cds_start": 131,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555059.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.1157G>C",
"hgvs_p": "p.Ser386Thr",
"transcript": "ENST00000886529.1",
"protein_id": "ENSP00000556588.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 478,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886529.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.1157G>C",
"hgvs_p": "p.Ser386Thr",
"transcript": "ENST00000886530.1",
"protein_id": "ENSP00000556589.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 478,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886530.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.1157G>C",
"hgvs_p": "p.Ser386Thr",
"transcript": "ENST00000954238.1",
"protein_id": "ENSP00000624297.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 478,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954238.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.1148G>C",
"hgvs_p": "p.Ser383Thr",
"transcript": "ENST00000886535.1",
"protein_id": "ENSP00000556594.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 475,
"cds_start": 1148,
"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": "ENST00000886535.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.1133G>C",
"hgvs_p": "p.Ser378Thr",
"transcript": "ENST00000886536.1",
"protein_id": "ENSP00000556595.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 470,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886536.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.1064G>C",
"hgvs_p": "p.Ser355Thr",
"transcript": "ENST00000886531.1",
"protein_id": "ENSP00000556590.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 447,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886531.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.1037G>C",
"hgvs_p": "p.Ser346Thr",
"transcript": "ENST00000886533.1",
"protein_id": "ENSP00000556592.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 438,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886533.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.992G>C",
"hgvs_p": "p.Ser331Thr",
"transcript": "ENST00000886534.1",
"protein_id": "ENSP00000556593.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 423,
"cds_start": 992,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886534.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Ser300Thr",
"transcript": "ENST00000886532.1",
"protein_id": "ENSP00000556591.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 392,
"cds_start": 899,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886532.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Ser300Thr",
"transcript": "ENST00000886537.1",
"protein_id": "ENSP00000556596.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 392,
"cds_start": 899,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886537.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "c.980-401G>C",
"hgvs_p": null,
"transcript": "ENST00000886528.1",
"protein_id": "ENSP00000556587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886528.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"hgvs_c": "n.595G>C",
"hgvs_p": null,
"transcript": "ENST00000539746.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000539746.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SARM1",
"gene_hgnc_id": 17074,
"hgvs_c": "n.170+2717C>G",
"hgvs_p": null,
"transcript": "ENST00000379061.8",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000379061.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258924",
"gene_hgnc_id": null,
"hgvs_c": "n.555+7035C>G",
"hgvs_p": null,
"transcript": "ENST00000591482.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000591482.1"
}
],
"gene_symbol": "VTN",
"gene_hgnc_id": 12724,
"dbsnp": "rs139553576",
"frequency_reference_population": 0.0000013684777,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136848,
"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": 0.06669270992279053,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.61,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_000638.4",
"gene_symbol": "VTN",
"hgnc_id": 12724,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1157G>C",
"hgvs_p": "p.Ser386Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000555059.2",
"gene_symbol": "ENSG00000273171",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Ser44Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000379061.8",
"gene_symbol": "SARM1",
"hgnc_id": 17074,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.170+2717C>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000591482.1",
"gene_symbol": "ENSG00000258924",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.555+7035C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}