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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: 15-82679729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82679729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "AP3B2",
"hgnc_id": 567,
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Lys394Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001278512.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CPEB1-AS1",
"hgnc_id": 27523,
"hgvs_c": "n.1329-12282C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 5,
"score": 5,
"transcript": "ENST00000560650.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5_Moderate",
"acmg_score": 5,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "15",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": " 48,Developmental and epileptic encephalopathy,Epileptic encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.2199999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1101,
"aa_ref": "K",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 3306,
"cds_start": 1182,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001278512.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Lys394Lys",
"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": "K",
"aa_end": null,
"aa_length": 1101,
"aa_ref": "K",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 3306,
"cds_start": 1182,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000535359.6",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Lys394Lys",
"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": "K",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "K",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3738,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 3267,
"cds_start": 1182,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000261722.8",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Lys394Lys",
"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": "K",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "K",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 3153,
"cds_start": 1086,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000535348.5",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1086G>A",
"hgvs_p": "p.Lys362Lys",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000537735.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.1328G>A",
"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.1329-12282C>T",
"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": "K",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "K",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 3393,
"cds_start": 1182,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000652847.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Lys394Lys",
"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": "K",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "K",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3683,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 3378,
"cds_start": 1311,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000642989.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Lys437Lys",
"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": "K",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "K",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 3249,
"cds_start": 1182,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004644.5",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Lys394Lys",
"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": "K",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "K",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 3249,
"cds_start": 1182,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000668990.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Lys394Lys",
"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": "K",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "K",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3601,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 3153,
"cds_start": 1086,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001278511.2",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1086G>A",
"hgvs_p": "p.Lys362Lys",
"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": "K",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "K",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 3078,
"cds_start": 1011,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000669930.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Lys337Lys",
"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": "K",
"aa_end": null,
"aa_length": 992,
"aa_ref": "K",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1182,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000666973.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Lys394Lys",
"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": "K",
"aa_end": null,
"aa_length": 718,
"aa_ref": "K",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 305,
"cds_end": null,
"cds_length": 2157,
"cds_start": 90,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000660624.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.90G>A",
"hgvs_p": "p.Lys30Lys",
"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": "K",
"aa_end": null,
"aa_length": 528,
"aa_ref": "K",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1086,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000664460.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1086G>A",
"hgvs_p": "p.Lys362Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499798.1",
"strand": false,
"transcript": "ENST00000664460.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "K",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1182,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000666055.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Lys394Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499608.1",
"strand": false,
"transcript": "ENST00000666055.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 144,
"aa_ref": "K",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 829,
"cdna_start": 308,
"cds_end": null,
"cds_length": 435,
"cds_start": 90,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000666894.1",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "c.90G>A",
"hgvs_p": "p.Lys30Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499678.1",
"strand": false,
"transcript": "ENST00000666894.1",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000535385.6",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.1685G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000543938.6",
"gene_hgnc_id": 567,
"gene_symbol": "AP3B2",
"hgvs_c": "n.1385G>A",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000657321.1",
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