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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: 2-200533001-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200533001&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200533001,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000357799.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Gly9Asp",
"transcript": "NM_152524.6",
"protein_id": "NP_689737.4",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1265,
"cds_start": 26,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 74,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "ENST00000357799.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Gly9Asp",
"transcript": "ENST00000357799.9",
"protein_id": "ENSP00000350447.4",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 1265,
"cds_start": 26,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 74,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "NM_152524.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Gly9Asp",
"transcript": "ENST00000409203.3",
"protein_id": "ENSP00000386249.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 247,
"cds_start": 26,
"cds_end": null,
"cds_length": 744,
"cdna_start": 114,
"cdna_end": null,
"cdna_length": 1041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Gly9Asp",
"transcript": "NM_001160046.1",
"protein_id": "NP_001153518.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1261,
"cds_start": 26,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 4029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Gly9Asp",
"transcript": "NM_001160033.1",
"protein_id": "NP_001153505.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1260,
"cds_start": 26,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 4535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Gly9Asp",
"transcript": "ENST00000418045.5",
"protein_id": "ENSP00000393325.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 86,
"cds_start": 26,
"cds_end": null,
"cds_length": 262,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Gly39Asp",
"transcript": "XM_017003452.3",
"protein_id": "XP_016858941.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1295,
"cds_start": 116,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Gly39Asp",
"transcript": "XM_047443501.1",
"protein_id": "XP_047299457.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1295,
"cds_start": 116,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Gly39Asp",
"transcript": "XM_017003454.3",
"protein_id": "XP_016858943.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1291,
"cds_start": 116,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.71G>A",
"hgvs_p": "p.Gly24Asp",
"transcript": "XM_005246344.5",
"protein_id": "XP_005246401.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 1280,
"cds_start": 71,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.71G>A",
"hgvs_p": "p.Gly24Asp",
"transcript": "XM_047443502.1",
"protein_id": "XP_047299458.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 1276,
"cds_start": 71,
"cds_end": null,
"cds_length": 3831,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Gly9Asp",
"transcript": "XM_005246345.5",
"protein_id": "XP_005246402.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1265,
"cds_start": 26,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Gly9Asp",
"transcript": "XM_047443503.1",
"protein_id": "XP_047299459.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1265,
"cds_start": 26,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 4738,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"hgvs_c": "n.155G>A",
"hgvs_p": null,
"transcript": "ENST00000460534.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SGO2",
"gene_hgnc_id": 30812,
"dbsnp": "rs1036533",
"frequency_reference_population": 0.07620819,
"hom_count_reference_population": 5517,
"allele_count_reference_population": 122633,
"gnomad_exomes_af": 0.0770633,
"gnomad_genomes_af": 0.0679952,
"gnomad_exomes_ac": 112315,
"gnomad_genomes_ac": 10318,
"gnomad_exomes_homalt": 5008,
"gnomad_genomes_homalt": 509,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0013193488121032715,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.1325,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.211,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357799.9",
"gene_symbol": "SGO2",
"hgnc_id": 30812,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.26G>A",
"hgvs_p": "p.Gly9Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}