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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: 15-82659602-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82659602&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "AP3B2",
"hgnc_id": 567,
"hgvs_c": "c.3264C>T",
"hgvs_p": "p.Gly1088Gly",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_001278512.2",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CPEB1-AS1",
"hgnc_id": 27523,
"hgvs_c": "n.1328+9456G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000560650.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS1",
"acmg_score": -9,
"allele_count_reference_population": 60,
"alphamissense_prediction": null,
"alphamissense_score": 0.0841,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "15",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1101,
"aa_ref": "G",
"aa_start": 1088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 3433,
"cds_end": null,
"cds_length": 3306,
"cds_start": 3264,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001278512.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.3264C>T",
"hgvs_p": "p.Gly1088Gly",
"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": "G",
"aa_end": null,
"aa_length": 1101,
"aa_ref": "G",
"aa_start": 1088,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 3433,
"cds_end": null,
"cds_length": 3306,
"cds_start": 3264,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000535359.6",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.3264C>T",
"hgvs_p": "p.Gly1088Gly",
"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": "G",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "G",
"aa_start": 1075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3738,
"cdna_start": 3438,
"cds_end": null,
"cds_length": 3267,
"cds_start": 3225,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000261722.8",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.3225C>T",
"hgvs_p": "p.Gly1075Gly",
"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": "G",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "G",
"aa_start": 1037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 3184,
"cds_end": null,
"cds_length": 3153,
"cds_start": 3111,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000535348.5",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.3111C>T",
"hgvs_p": "p.Gly1037Gly",
"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": 26,
"exon_rank_end": null,
"feature": "ENST00000537735.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.3353C>T",
"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+9456G>A",
"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": "Y",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "H",
"aa_start": 1080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 3407,
"cds_end": null,
"cds_length": 3393,
"cds_start": 3238,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000652847.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.3238C>T",
"hgvs_p": "p.His1080Tyr",
"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": "G",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "G",
"aa_start": 1112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3683,
"cdna_start": 3362,
"cds_end": null,
"cds_length": 3378,
"cds_start": 3336,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000642989.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.3336C>T",
"hgvs_p": "p.Gly1112Gly",
"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": "G",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "G",
"aa_start": 1069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 3376,
"cds_end": null,
"cds_length": 3249,
"cds_start": 3207,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_004644.5",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.3207C>T",
"hgvs_p": "p.Gly1069Gly",
"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": "G",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "G",
"aa_start": 1069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 3376,
"cds_end": null,
"cds_length": 3249,
"cds_start": 3207,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000668990.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.3207C>T",
"hgvs_p": "p.Gly1069Gly",
"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": "G",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "G",
"aa_start": 1037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3601,
"cdna_start": 3280,
"cds_end": null,
"cds_length": 3153,
"cds_start": 3111,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001278511.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.3111C>T",
"hgvs_p": "p.Gly1037Gly",
"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": "G",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "G",
"aa_start": 1012,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 3177,
"cds_end": null,
"cds_length": 3078,
"cds_start": 3036,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000669930.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.3036C>T",
"hgvs_p": "p.Gly1012Gly",
"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": "G",
"aa_end": null,
"aa_length": 718,
"aa_ref": "G",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 2330,
"cds_end": null,
"cds_length": 2157,
"cds_start": 2115,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000660624.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.2115C>T",
"hgvs_p": "p.Gly705Gly",
"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": "G",
"aa_end": null,
"aa_length": 145,
"aa_ref": "G",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": 417,
"cds_end": null,
"cds_length": 438,
"cds_start": 396,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001348441.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Gly132Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335370.1",
"strand": false,
"transcript": "NM_001348441.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 992,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": null,
"cds_end": null,
"cds_length": 2979,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000666973.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.*89C>T",
"hgvs_p": null,
"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": 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": 24,
"exon_rank_end": null,
"feature": "ENST00000535385.6",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.4151C>T",
"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": 25,
"exon_rank_end": null,
"feature": "ENST00000543938.6",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.3851C>T",
"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": 26,
"exon_rank_end": null,
"feature": "ENST00000657321.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.*3053C>T",
"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": 19,
"exon_rank_end": null,
"feature": "ENST00000661532.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.*785C>T",
"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": 27,
"exon_rank_end": null,
"feature": "ENST00000663651.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.3349C>T",
"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,
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