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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: 6-30920091-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30920091&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30920091,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001167734.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1168G>T",
"hgvs_p": "p.Ala390Ser",
"transcript": "NM_020442.6",
"protein_id": "NP_065175.4",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1168,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000676266.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020442.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1168G>T",
"hgvs_p": "p.Ala390Ser",
"transcript": "ENST00000676266.1",
"protein_id": "ENSP00000502585.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1168,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020442.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676266.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1168G>T",
"hgvs_p": "p.Ala390Ser",
"transcript": "ENST00000321897.9",
"protein_id": "ENSP00000316092.5",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1168,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "n.26G>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476162.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "NM_001167734.2",
"protein_id": "NP_001161206.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1093,
"cds_start": 1258,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167734.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Ala395Ser",
"transcript": "ENST00000924208.1",
"protein_id": "ENSP00000594267.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1068,
"cds_start": 1183,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924208.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1168G>T",
"hgvs_p": "p.Ala390Ser",
"transcript": "ENST00000541562.6",
"protein_id": "ENSP00000441000.2",
"transcript_support_level": 2,
"aa_start": 390,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1168,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541562.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1168G>T",
"hgvs_p": "p.Ala390Ser",
"transcript": "ENST00000897143.1",
"protein_id": "ENSP00000567202.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 1062,
"cds_start": 1168,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897143.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1168G>T",
"hgvs_p": "p.Ala390Ser",
"transcript": "ENST00000897142.1",
"protein_id": "ENSP00000567201.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1168,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897142.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1168G>T",
"hgvs_p": "p.Ala390Ser",
"transcript": "ENST00000947399.1",
"protein_id": "ENSP00000617458.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1168,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947399.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.748G>T",
"hgvs_p": "p.Ala250Ser",
"transcript": "NM_001167733.3",
"protein_id": "NP_001161205.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 923,
"cds_start": 748,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167733.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.748G>T",
"hgvs_p": "p.Ala250Ser",
"transcript": "ENST00000625423.2",
"protein_id": "ENSP00000485818.1",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 923,
"cds_start": 748,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625423.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1181-4G>T",
"hgvs_p": null,
"transcript": "ENST00000924207.1",
"protein_id": "ENSP00000594266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": null,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1166-4G>T",
"hgvs_p": null,
"transcript": "ENST00000672801.1",
"protein_id": "ENSP00000500615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1061,
"cds_start": null,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672801.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "c.1166-4G>T",
"hgvs_p": null,
"transcript": "ENST00000924206.1",
"protein_id": "ENSP00000594265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1061,
"cds_start": null,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"hgvs_c": "n.1088G>T",
"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": null,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288473",
"gene_hgnc_id": null,
"hgvs_c": "n.3781G>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": 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": "ENST00000477288.5"
}
],
"gene_symbol": "VARS2",
"gene_hgnc_id": 21642,
"dbsnp": "rs202201763",
"frequency_reference_population": 7.2021305e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.20213e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6676285266876221,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.432,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2932,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.787,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001167734.2",
"gene_symbol": "VARS2",
"hgnc_id": 21642,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000477288.5",
"gene_symbol": "ENSG00000288473",
"hgnc_id": null,
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3781G>T",
"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
}