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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: 3-10096339-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10096339&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FANCD2",
"hgnc_id": 3585,
"hgvs_c": "c.4052C>T",
"hgvs_p": "p.Thr1351Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_033084.6",
"verdict": "Likely_benign"
},
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FANCD2OS",
"hgnc_id": 28623,
"hgvs_c": "c.*43+7859G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_173472.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_score": -1,
"allele_count_reference_population": 114,
"alphamissense_prediction": null,
"alphamissense_score": 0.0623,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "3",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group D2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12312939763069153,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "T",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 4122,
"cds_end": null,
"cds_length": 4356,
"cds_start": 4052,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_001018115.3",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4052C>T",
"hgvs_p": "p.Thr1351Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000675286.1",
"protein_coding": true,
"protein_id": "NP_001018125.1",
"strand": true,
"transcript": "NM_001018115.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "T",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 4122,
"cds_end": null,
"cds_length": 4356,
"cds_start": 4052,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000675286.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4052C>T",
"hgvs_p": "p.Thr1351Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001018115.3",
"protein_coding": true,
"protein_id": "ENSP00000502379.1",
"strand": true,
"transcript": "ENST00000675286.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "T",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5219,
"cdna_start": 4145,
"cds_end": null,
"cds_length": 4416,
"cds_start": 4052,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000287647.7",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4052C>T",
"hgvs_p": "p.Thr1351Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000287647.3",
"strand": true,
"transcript": "ENST00000287647.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "T",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 4213,
"cds_end": null,
"cds_length": 4356,
"cds_start": 4052,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000419585.5",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4052C>T",
"hgvs_p": "p.Thr1351Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398754.1",
"strand": true,
"transcript": "ENST00000419585.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 177,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": null,
"cds_end": null,
"cds_length": 534,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000524279.1",
"gene_hgnc_id": 28623,
"gene_symbol": "FANCD2OS",
"hgvs_c": "c.*43+7859G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429663.1",
"strand": false,
"transcript": "ENST00000524279.1",
"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": 3425,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000421731.5",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "n.*208C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389936.1",
"strand": true,
"transcript": "ENST00000421731.5",
"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": 3425,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000421731.5",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "n.*208C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389936.1",
"strand": true,
"transcript": "ENST00000421731.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "T",
"aa_start": 1375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5162,
"cdna_start": 4194,
"cds_end": null,
"cds_length": 4428,
"cds_start": 4124,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000915105.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4124C>T",
"hgvs_p": "p.Thr1375Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585164.1",
"strand": true,
"transcript": "ENST00000915105.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "T",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4879,
"cdna_start": 4122,
"cds_end": null,
"cds_length": 4416,
"cds_start": 4052,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_033084.6",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4052C>T",
"hgvs_p": "p.Thr1351Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_149075.2",
"strand": true,
"transcript": "NM_033084.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1458,
"aa_ref": "T",
"aa_start": 1338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4840,
"cdna_start": 4083,
"cds_end": null,
"cds_length": 4377,
"cds_start": 4013,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001374254.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4013C>T",
"hgvs_p": "p.Thr1338Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361183.1",
"strand": true,
"transcript": "NM_001374254.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "T",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 4275,
"cds_end": null,
"cds_length": 4356,
"cds_start": 4052,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_001319984.2",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4052C>T",
"hgvs_p": "p.Thr1351Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306913.1",
"strand": true,
"transcript": "NM_001319984.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "T",
"aa_start": 1351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5101,
"cdna_start": 4129,
"cds_end": null,
"cds_length": 4356,
"cds_start": 4052,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000915101.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4052C>T",
"hgvs_p": "p.Thr1351Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585160.1",
"strand": true,
"transcript": "ENST00000915101.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "T",
"aa_start": 1350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5114,
"cdna_start": 4139,
"cds_end": null,
"cds_length": 4353,
"cds_start": 4049,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000915096.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4049C>T",
"hgvs_p": "p.Thr1350Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585155.1",
"strand": true,
"transcript": "ENST00000915096.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "T",
"aa_start": 1348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 4103,
"cds_end": null,
"cds_length": 4347,
"cds_start": 4043,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000915113.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4043C>T",
"hgvs_p": "p.Thr1348Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585172.1",
"strand": true,
"transcript": "ENST00000915113.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1439,
"aa_ref": "T",
"aa_start": 1339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5082,
"cdna_start": 4106,
"cds_end": null,
"cds_length": 4320,
"cds_start": 4016,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000915095.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4016C>T",
"hgvs_p": "p.Thr1339Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585154.1",
"strand": true,
"transcript": "ENST00000915095.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "T",
"aa_start": 1338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5054,
"cdna_start": 4082,
"cds_end": null,
"cds_length": 4317,
"cds_start": 4013,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000915104.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4013C>T",
"hgvs_p": "p.Thr1338Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585163.1",
"strand": true,
"transcript": "ENST00000915104.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "T",
"aa_start": 1338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5190,
"cdna_start": 4218,
"cds_end": null,
"cds_length": 4317,
"cds_start": 4013,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000915106.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.4013C>T",
"hgvs_p": "p.Thr1338Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585165.1",
"strand": true,
"transcript": "ENST00000915106.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1431,
"aa_ref": "T",
"aa_start": 1331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5161,
"cdna_start": 4193,
"cds_end": null,
"cds_length": 4296,
"cds_start": 3992,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000915108.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.3992C>T",
"hgvs_p": "p.Thr1331Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585167.1",
"strand": true,
"transcript": "ENST00000915108.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "T",
"aa_start": 1323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 4163,
"cds_end": null,
"cds_length": 4272,
"cds_start": 3968,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000915110.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.3968C>T",
"hgvs_p": "p.Thr1323Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585169.1",
"strand": true,
"transcript": "ENST00000915110.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1414,
"aa_ref": "T",
"aa_start": 1314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 4011,
"cds_end": null,
"cds_length": 4245,
"cds_start": 3941,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001374253.1",
"gene_hgnc_id": 3585,
"gene_symbol": "FANCD2",
"hgvs_c": "c.3941C>T",
"hgvs_p": "p.Thr1314Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361182.1",
"strand": true,
"transcript": "NM_001374253.1",
"transcript_support_level": null
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