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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: 6-31779200-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31779200&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31779200,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006295.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3493G>C",
"hgvs_p": "p.Val1165Leu",
"transcript": "NM_006295.3",
"protein_id": "NP_006286.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375663.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006295.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3493G>C",
"hgvs_p": "p.Val1165Leu",
"transcript": "ENST00000375663.8",
"protein_id": "ENSP00000364815.3",
"transcript_support_level": 1,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006295.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375663.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3538G>C",
"hgvs_p": "p.Val1180Leu",
"transcript": "ENST00000851851.1",
"protein_id": "ENSP00000521910.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3538,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851851.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3532G>C",
"hgvs_p": "p.Val1178Leu",
"transcript": "ENST00000851849.1",
"protein_id": "ENSP00000521908.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1277,
"cds_start": 3532,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851849.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3526G>C",
"hgvs_p": "p.Val1176Leu",
"transcript": "ENST00000941400.1",
"protein_id": "ENSP00000611459.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3526,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941400.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3496G>C",
"hgvs_p": "p.Val1166Leu",
"transcript": "ENST00000851848.1",
"protein_id": "ENSP00000521907.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3496,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851848.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3490G>C",
"hgvs_p": "p.Val1164Leu",
"transcript": "ENST00000925769.1",
"protein_id": "ENSP00000595828.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3490,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925769.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3493G>C",
"hgvs_p": "p.Val1165Leu",
"transcript": "ENST00000941401.1",
"protein_id": "ENSP00000611460.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941401.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3481G>C",
"hgvs_p": "p.Val1161Leu",
"transcript": "ENST00000925773.1",
"protein_id": "ENSP00000595832.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3481,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925773.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3481G>C",
"hgvs_p": "p.Val1161Leu",
"transcript": "ENST00000925774.1",
"protein_id": "ENSP00000595833.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3481,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925774.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3478G>C",
"hgvs_p": "p.Val1160Leu",
"transcript": "ENST00000925775.1",
"protein_id": "ENSP00000595834.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3478,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925775.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3475G>C",
"hgvs_p": "p.Val1159Leu",
"transcript": "ENST00000925772.1",
"protein_id": "ENSP00000595831.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3475,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925772.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3469G>C",
"hgvs_p": "p.Val1157Leu",
"transcript": "ENST00000925770.1",
"protein_id": "ENSP00000595829.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925770.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3367G>C",
"hgvs_p": "p.Val1123Leu",
"transcript": "ENST00000925771.1",
"protein_id": "ENSP00000595830.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1222,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925771.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3358G>C",
"hgvs_p": "p.Val1120Leu",
"transcript": "ENST00000851850.1",
"protein_id": "ENSP00000521909.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851850.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3358G>C",
"hgvs_p": "p.Val1120Leu",
"transcript": "ENST00000925776.1",
"protein_id": "ENSP00000595835.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925776.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3334G>C",
"hgvs_p": "p.Val1112Leu",
"transcript": "ENST00000925768.1",
"protein_id": "ENSP00000595827.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925768.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3496G>C",
"hgvs_p": "p.Val1166Leu",
"transcript": "XM_005249362.3",
"protein_id": "XP_005249419.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3496,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249362.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3496G>C",
"hgvs_p": "p.Val1166Leu",
"transcript": "XM_047419296.1",
"protein_id": "XP_047275252.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3496,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419296.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "c.3493G>C",
"hgvs_p": "p.Val1165Leu",
"transcript": "XM_047419297.1",
"protein_id": "XP_047275253.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419297.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"hgvs_c": "n.*30G>C",
"hgvs_p": null,
"transcript": "ENST00000463184.1",
"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": "ENST00000463184.1"
}
],
"gene_symbol": "VARS1",
"gene_hgnc_id": 12651,
"dbsnp": "rs1331528732",
"frequency_reference_population": 0.0000065687486,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656875,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14262822270393372,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.2341,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.39,
"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": 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": "NM_006295.3",
"gene_symbol": "VARS1",
"hgnc_id": 12651,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3493G>C",
"hgvs_p": "p.Val1165Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}