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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: 1-32222313-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32222313&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM234",
"hgnc_id": 28837,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001366191.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EIF3I",
"hgnc_id": 3272,
"hgvs_c": "c.-84-45A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000676801.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1924,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1026010513305664,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 140,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1107,
"cdna_start": 41,
"cds_end": null,
"cds_length": 423,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_019118.5",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309777.11",
"protein_coding": true,
"protein_id": "NP_061991.3",
"strand": false,
"transcript": "NM_019118.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 140,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1107,
"cdna_start": 41,
"cds_end": null,
"cds_length": 423,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000309777.11",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019118.5",
"protein_coding": true,
"protein_id": "ENSP00000309792.6",
"strand": false,
"transcript": "ENST00000309777.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 180,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": 31,
"cds_end": null,
"cds_length": 543,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000373593.5",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362695.1",
"strand": false,
"transcript": "ENST00000373593.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 164,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 721,
"cdna_start": 26,
"cds_end": null,
"cds_length": 495,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000344461.7",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344021.3",
"strand": false,
"transcript": "ENST00000344461.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000461402.5",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "n.10T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433020.1",
"strand": false,
"transcript": "ENST00000461402.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000489170.5",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "n.10T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436631.1",
"strand": false,
"transcript": "ENST00000489170.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000491434.5",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "n.10T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435588.1",
"strand": false,
"transcript": "ENST00000491434.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 164,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 736,
"cdna_start": 41,
"cds_end": null,
"cds_length": 495,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001366191.2",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353120.1",
"strand": false,
"transcript": "NM_001366191.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 67,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 737,
"cdna_start": 47,
"cds_end": null,
"cds_length": 204,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000484490.1",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432747.1",
"strand": false,
"transcript": "ENST00000484490.1",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 172,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 41,
"cds_end": null,
"cds_length": 519,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017001816.2",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857305.1",
"strand": false,
"transcript": "XM_017001816.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 164,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 41,
"cds_end": null,
"cds_length": 495,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047425479.1",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281435.1",
"strand": false,
"transcript": "XM_047425479.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 164,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 41,
"cds_end": null,
"cds_length": 495,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047425483.1",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281439.1",
"strand": false,
"transcript": "XM_047425483.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 164,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 739,
"cdna_start": 41,
"cds_end": null,
"cds_length": 495,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047425485.1",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281441.1",
"strand": false,
"transcript": "XM_047425485.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 161,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": 41,
"cds_end": null,
"cds_length": 486,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017001825.2",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857314.1",
"strand": false,
"transcript": "XM_017001825.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 161,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 913,
"cdna_start": 41,
"cds_end": null,
"cds_length": 486,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047425493.1",
"gene_hgnc_id": 28837,
"gene_symbol": "TMEM234",
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281449.1",
"strand": false,
"transcript": "XM_047425493.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 325,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": null,
"cds_end": null,
"cds_length": 978,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676801.1",
"gene_hgnc_id": 3272,
"gene_symbol": "EIF3I",
"hgvs_c": "c.-84-45A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503348.1",
"strand": true,
"transcript": "ENST00000676801.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 325,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": null,
"cds_end": null,
"cds_length": 978,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677202.1",
"gene_hgnc_id": 3272,
"gene_symbol": "EIF3I",
"hgvs_c": "c.-84-45A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504034.1",
"strand": true,
"transcript": "ENST00000677202.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 325,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": null,
"cds_end": null,
"cds_length": 978,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677701.1",
"gene_hgnc_id": 3272,
"gene_symbol": "EIF3I",
"hgvs_c": "c.-84-45A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503539.1",
"strand": true,
"transcript": "ENST00000677701.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 325,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": null,
"cds_end": null,
"cds_length": 978,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677760.1",
"gene_hgnc_id": 3272,
"gene_symbol": "EIF3I",
"hgvs_c": "c.-84-45A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502867.1",
"strand": true,
"transcript": "ENST00000677760.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677772.1",
"gene_hgnc_id": 3272,
"gene_symbol": "EIF3I",
"hgvs_c": "c.-141-225A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504502.1",
"strand": true,
"transcript": "ENST00000677772.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 969,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
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