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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: 15-82663148-TGTGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82663148&ref=TGTGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "AP3B2",
"hgnc_id": 567,
"hgvs_c": "c.2579_2582delTCAC",
"hgvs_p": "p.Leu860fs",
"inheritance_mode": "AR,AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001278512.2",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CPEB1-AS1",
"hgnc_id": 27523,
"hgvs_c": "n.1328+13006_1328+13009delAGTG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000560650.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " 48,Developmental and epileptic encephalopathy",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1101,
"aa_ref": "LT",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 2751,
"cds_end": null,
"cds_length": 3306,
"cds_start": 2579,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001278512.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2579_2582delTCAC",
"hgvs_p": "p.Leu860fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000535359.6",
"protein_coding": true,
"protein_id": "NP_001265441.1",
"strand": false,
"transcript": "NM_001278512.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1101,
"aa_ref": "LT",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 2751,
"cds_end": null,
"cds_length": 3306,
"cds_start": 2579,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000535359.6",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2579_2582delTCAC",
"hgvs_p": "p.Leu860fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001278512.2",
"protein_coding": true,
"protein_id": "ENSP00000440984.1",
"strand": false,
"transcript": "ENST00000535359.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1088,
"aa_ref": "LT",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3738,
"cdna_start": 2756,
"cds_end": null,
"cds_length": 3267,
"cds_start": 2540,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000261722.8",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2540_2543delTCAC",
"hgvs_p": "p.Leu847fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261722.4",
"strand": false,
"transcript": "ENST00000261722.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1050,
"aa_ref": "LT",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2426,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000535348.5",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2426_2429delTCAC",
"hgvs_p": "p.Leu809fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438721.1",
"strand": false,
"transcript": "ENST00000535348.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3663,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000537735.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.2668_2671delTCAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000537735.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000560650.1",
"gene_hgnc_id": 27523,
"gene_symbol": "CPEB1-AS1",
"hgvs_c": "n.1328+13006_1328+13009delAGTG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000560650.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1130,
"aa_ref": "LT",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 2694,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2522,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000652847.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2522_2525delTCAC",
"hgvs_p": "p.Leu841fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499785.1",
"strand": false,
"transcript": "ENST00000652847.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1125,
"aa_ref": "LT",
"aa_start": 884,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3683,
"cdna_start": 2680,
"cds_end": null,
"cds_length": 3378,
"cds_start": 2651,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000642989.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2651_2654delTCAC",
"hgvs_p": "p.Leu884fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493485.1",
"strand": false,
"transcript": "ENST00000642989.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1082,
"aa_ref": "LT",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 2694,
"cds_end": null,
"cds_length": 3249,
"cds_start": 2522,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_004644.5",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2522_2525delTCAC",
"hgvs_p": "p.Leu841fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004635.2",
"strand": false,
"transcript": "NM_004644.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1082,
"aa_ref": "LT",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 2694,
"cds_end": null,
"cds_length": 3249,
"cds_start": 2522,
"consequences": [
"frameshift_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000668990.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2522_2525delTCAC",
"hgvs_p": "p.Leu841fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499235.1",
"strand": false,
"transcript": "ENST00000668990.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1050,
"aa_ref": "LT",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3601,
"cdna_start": 2598,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2426,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001278511.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2426_2429delTCAC",
"hgvs_p": "p.Leu809fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265440.1",
"strand": false,
"transcript": "NM_001278511.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1025,
"aa_ref": "LT",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 2495,
"cds_end": null,
"cds_length": 3078,
"cds_start": 2351,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000669930.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2351_2354delTCAC",
"hgvs_p": "p.Leu784fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499671.1",
"strand": false,
"transcript": "ENST00000669930.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 992,
"aa_ref": "LT",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 2642,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2522,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000666973.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2522_2525delTCAC",
"hgvs_p": "p.Leu841fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499288.1",
"strand": false,
"transcript": "ENST00000666973.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": "LT",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1430,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000660624.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1430_1433delTCAC",
"hgvs_p": "p.Leu477fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499379.1",
"strand": false,
"transcript": "ENST00000660624.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4201,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000535385.6",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.3025_3028delTCAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000535385.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000543938.6",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.2725_2728delTCAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000543938.6",
"transcript_support_level": 2
},
{
"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": 3698,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000657321.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.*2597_*2600delTCAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499716.1",
"strand": false,
"transcript": "ENST00000657321.1",
"transcript_support_level": null
},
{
"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": 2750,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000661532.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.*100_*103delTCAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499583.1",
"strand": false,
"transcript": "ENST00000661532.1",
"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": 3651,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000663651.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.2664_2667delTCAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000663651.1",
"transcript_support_level": null
},
{
"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": 4643,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000667758.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.*2736_*2739delTCAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499318.1",
"strand": false,
"transcript": "ENST00000667758.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
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