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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: 6-30915004-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30915004&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30915004,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000676266.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Ala56Ala",
"transcript": "NM_020442.6",
"protein_id": "NP_065175.4",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1063,
"cds_start": 168,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": "ENST00000676266.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Ala56Ala",
"transcript": "ENST00000676266.1",
"protein_id": "ENSP00000502585.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1063,
"cds_start": 168,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": "NM_020442.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Ala56Ala",
"transcript": "ENST00000321897.9",
"protein_id": "ENSP00000316092.5",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 1063,
"cds_start": 168,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 4073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.258G>T",
"hgvs_p": "p.Ala86Ala",
"transcript": "NM_001167734.2",
"protein_id": "NP_001161206.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1093,
"cds_start": 258,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Ala56Ala",
"transcript": "ENST00000541562.6",
"protein_id": "ENSP00000441000.2",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 1063,
"cds_start": 168,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Ala56Ala",
"transcript": "ENST00000672801.1",
"protein_id": "ENSP00000500615.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1061,
"cds_start": 168,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Ala56Ala",
"transcript": "ENST00000428017.5",
"protein_id": "ENSP00000403749.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 325,
"cds_start": 168,
"cds_end": null,
"cds_length": 978,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 1103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Ala56Ala",
"transcript": "ENST00000421263.1",
"protein_id": "ENSP00000416390.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 114,
"cds_start": 168,
"cds_end": null,
"cds_length": 345,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288473",
"gene_hgnc_id": null,
"hgvs_c": "n.2756G>T",
"hgvs_p": null,
"transcript": "ENST00000477288.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.-219-152G>T",
"hgvs_p": null,
"transcript": "NM_001167733.3",
"protein_id": "NP_001161205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 923,
"cds_start": -4,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.-219-152G>T",
"hgvs_p": null,
"transcript": "ENST00000625423.2",
"protein_id": "ENSP00000485818.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 923,
"cds_start": -4,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "n.80-152G>T",
"hgvs_p": null,
"transcript": "ENST00000467717.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"dbsnp": "rs1264301",
"frequency_reference_population": 0.33377555,
"hom_count_reference_population": 93559,
"allele_count_reference_population": 538424,
"gnomad_exomes_af": 0.339376,
"gnomad_genomes_af": 0.279965,
"gnomad_exomes_ac": 495848,
"gnomad_genomes_ac": 42576,
"gnomad_exomes_homalt": 86715,
"gnomad_genomes_homalt": 6844,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"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": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.205,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000676266.1",
"gene_symbol": "VARS2",
"hgnc_id": 21642,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Ala56Ala"
},
{
"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.2756G>T",
"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:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}