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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: 1-235448220-CAAAAAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235448220&ref=CAAAAAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "B3GALNT2",
"hgnc_id": 28596,
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_152490.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TBCE",
"hgnc_id": 11582,
"hgvs_c": "c.1553-114_1553-109delAAAAAA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001287801.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285053",
"hgnc_id": null,
"hgvs_c": "c.1400-114_1400-109delAAAAAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000647186.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 500,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4719,
"cdna_start": null,
"cds_end": null,
"cds_length": 1503,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_152490.5",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366600.8",
"protein_coding": true,
"protein_id": "NP_689703.1",
"strand": false,
"transcript": "NM_152490.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 500,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4719,
"cdna_start": null,
"cds_end": null,
"cds_length": 1503,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000366600.8",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152490.5",
"protein_coding": true,
"protein_id": "ENSP00000355559.3",
"strand": false,
"transcript": "ENST00000366600.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 527,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5374,
"cdna_start": null,
"cds_end": null,
"cds_length": 1584,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003193.5",
"gene_hgnc_id": 11582,
"gene_symbol": "TBCE",
"hgvs_c": "c.1400-114_1400-109delAAAAAA",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642610.2",
"protein_coding": true,
"protein_id": "NP_003184.1",
"strand": true,
"transcript": "NM_003193.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 527,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5374,
"cdna_start": null,
"cds_end": null,
"cds_length": 1584,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642610.2",
"gene_hgnc_id": 11582,
"gene_symbol": "TBCE",
"hgvs_c": "c.1400-114_1400-109delAAAAAA",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003193.5",
"protein_coding": true,
"protein_id": "ENSP00000494796.1",
"strand": true,
"transcript": "ENST00000642610.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 527,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": null,
"cds_end": null,
"cds_length": 1584,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647186.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285053",
"hgvs_c": "c.1400-114_1400-109delAAAAAA",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494775.1",
"strand": true,
"transcript": "ENST00000647186.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1683,
"cdna_start": null,
"cds_end": null,
"cds_length": 1395,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366601.8",
"gene_hgnc_id": 11582,
"gene_symbol": "TBCE",
"hgvs_c": "c.1211-114_1211-109delAAAAAA",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355560.4",
"strand": true,
"transcript": "ENST00000366601.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 540,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4832,
"cdna_start": null,
"cds_end": null,
"cds_length": 1623,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954792.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624851.1",
"strand": false,
"transcript": "ENST00000954792.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 499,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": null,
"cds_end": null,
"cds_length": 1500,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000920824.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590883.1",
"strand": false,
"transcript": "ENST00000920824.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 499,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4666,
"cdna_start": null,
"cds_end": null,
"cds_length": 1500,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000920826.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590885.1",
"strand": false,
"transcript": "ENST00000920826.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4652,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000954793.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624852.1",
"strand": false,
"transcript": "ENST00000954793.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000920827.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590886.1",
"strand": false,
"transcript": "ENST00000920827.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 286,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": null,
"cds_end": null,
"cds_length": 861,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000920825.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590884.1",
"strand": false,
"transcript": "ENST00000920825.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3915,
"cdna_start": null,
"cds_end": null,
"cds_length": 738,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920823.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590882.1",
"strand": false,
"transcript": "ENST00000920823.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": null,
"cds_end": null,
"cds_length": 735,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920822.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590881.1",
"strand": false,
"transcript": "ENST00000920822.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000883743.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553802.1",
"strand": false,
"transcript": "ENST00000883743.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4842,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017000394.2",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.*1980_*1985delTTTTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855883.1",
"strand": false,
"transcript": "XM_017000394.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": null,
"cds_end": null,
"cds_length": 1737,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287801.2",
"gene_hgnc_id": 11582,
"gene_symbol": "TBCE",
"hgvs_c": "c.1553-114_1553-109delAAAAAA",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274730.1",
"strand": true,
"transcript": "NM_001287801.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 578,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": null,
"cds_end": null,
"cds_length": 1737,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543662.4",
"gene_hgnc_id": 11582,
"gene_symbol": "TBCE",
"hgvs_c": "c.1553-114_1553-109delAAAAAA",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439170.1",
"strand": true,
"transcript": "ENST00000543662.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": null,
"cds_end": null,
"cds_length": 1650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644217.1",
"gene_hgnc_id": 11582,
"gene_symbol": "TBCE",
"hgvs_c": "c.1466-114_1466-109delAAAAAA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494646.1",
"strand": true,
"transcript": "ENST00000644217.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 527,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5422,
"cdna_start": null,
"cds_end": null,
"cds_length": 1584,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001079515.3",
"gene_hgnc_id": 11582,
"gene_symbol": "TBCE",
"hgvs_c": "c.1400-114_1400-109delAAAAAA",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001072983.1",
"strand": true,
"transcript": "NM_001079515.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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