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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: 6-30926164-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30926164&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30926164,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001167734.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.3146G>A",
"hgvs_p": "p.Arg1049Gln",
"transcript": "NM_020442.6",
"protein_id": "NP_065175.4",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1063,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": "ENST00000676266.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020442.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.3146G>A",
"hgvs_p": "p.Arg1049Gln",
"transcript": "ENST00000676266.1",
"protein_id": "ENSP00000502585.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1063,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": "NM_020442.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676266.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.3146G>A",
"hgvs_p": "p.Arg1049Gln",
"transcript": "ENST00000321897.9",
"protein_id": "ENSP00000316092.5",
"transcript_support_level": 1,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1063,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 3778,
"cdna_end": null,
"cdna_length": 4073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321897.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "n.1933G>A",
"hgvs_p": null,
"transcript": "ENST00000476162.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476162.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.3236G>A",
"hgvs_p": "p.Arg1079Gln",
"transcript": "NM_001167734.2",
"protein_id": "NP_001161206.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3236,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167734.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.3161G>A",
"hgvs_p": "p.Arg1054Gln",
"transcript": "ENST00000924208.1",
"protein_id": "ENSP00000594267.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3161,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924208.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "ENST00000924207.1",
"protein_id": "ENSP00000594266.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3155,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3271,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924207.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.3146G>A",
"hgvs_p": "p.Arg1049Gln",
"transcript": "ENST00000541562.6",
"protein_id": "ENSP00000441000.2",
"transcript_support_level": 2,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1063,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 3317,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541562.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.3143G>A",
"hgvs_p": "p.Arg1048Gln",
"transcript": "ENST00000897143.1",
"protein_id": "ENSP00000567202.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1062,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 3298,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897143.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.3140G>A",
"hgvs_p": "p.Arg1047Gln",
"transcript": "ENST00000672801.1",
"protein_id": "ENSP00000500615.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1061,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 3772,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672801.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.3140G>A",
"hgvs_p": "p.Arg1047Gln",
"transcript": "ENST00000924206.1",
"protein_id": "ENSP00000594265.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1061,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924206.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.2993G>A",
"hgvs_p": "p.Arg998Gln",
"transcript": "ENST00000897142.1",
"protein_id": "ENSP00000567201.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897142.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.2993G>A",
"hgvs_p": "p.Arg998Gln",
"transcript": "ENST00000947399.1",
"protein_id": "ENSP00000617458.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 3147,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947399.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001167733.3",
"protein_id": "NP_001161205.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 923,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 3052,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167733.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "ENST00000625423.2",
"protein_id": "ENSP00000485818.1",
"transcript_support_level": 2,
"aa_start": 909,
"aa_end": null,
"aa_length": 923,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 3070,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625423.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "n.3134G>A",
"hgvs_p": null,
"transcript": "ENST00000469358.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469358.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "n.1705G>A",
"hgvs_p": null,
"transcript": "ENST00000473916.1",
"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": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288473",
"gene_hgnc_id": null,
"hgvs_c": "n.5759G>A",
"hgvs_p": null,
"transcript": "ENST00000477288.5",
"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": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477288.5"
}
],
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"dbsnp": "rs4678",
"frequency_reference_population": 0.18423685,
"hom_count_reference_population": 29832,
"allele_count_reference_population": 297170,
"gnomad_exomes_af": 0.187852,
"gnomad_genomes_af": 0.149545,
"gnomad_exomes_ac": 274406,
"gnomad_genomes_ac": 22764,
"gnomad_exomes_homalt": 27916,
"gnomad_genomes_homalt": 1916,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001225799322128296,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0647,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.972,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001167734.2",
"gene_symbol": "VARS2",
"hgnc_id": 21642,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3236G>A",
"hgvs_p": "p.Arg1079Gln"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000477288.5",
"gene_symbol": "ENSG00000288473",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.5759G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}