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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: 5-10250350-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10250350&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCT5",
"hgnc_id": 1618,
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_012073.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0947,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.02356371283531189,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 541,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 71,
"cds_end": null,
"cds_length": 1626,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_012073.5",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000280326.9",
"protein_coding": true,
"protein_id": "NP_036205.1",
"strand": true,
"transcript": "NM_012073.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 541,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 71,
"cds_end": null,
"cds_length": 1626,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000280326.9",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012073.5",
"protein_coding": true,
"protein_id": "ENSP00000280326.4",
"strand": true,
"transcript": "ENST00000280326.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 565,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1981,
"cdna_start": 69,
"cds_end": null,
"cds_length": 1698,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000964556.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634615.1",
"strand": true,
"transcript": "ENST00000964556.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 549,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 62,
"cds_end": null,
"cds_length": 1650,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000964554.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634613.1",
"strand": true,
"transcript": "ENST00000964554.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 547,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 63,
"cds_end": null,
"cds_length": 1644,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000882453.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552512.1",
"strand": true,
"transcript": "ENST00000882453.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 538,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": 52,
"cds_end": null,
"cds_length": 1617,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000882451.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552510.1",
"strand": true,
"transcript": "ENST00000882451.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 124,
"cds_end": null,
"cds_length": 1608,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938096.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608155.1",
"strand": true,
"transcript": "ENST00000938096.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 71,
"cds_end": null,
"cds_length": 1605,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938101.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608160.1",
"strand": true,
"transcript": "ENST00000938101.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 518,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 43,
"cds_end": null,
"cds_length": 1557,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000882457.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552516.1",
"strand": true,
"transcript": "ENST00000882457.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 516,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 108,
"cds_end": null,
"cds_length": 1551,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000882452.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552511.1",
"strand": true,
"transcript": "ENST00000882452.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 512,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 69,
"cds_end": null,
"cds_length": 1539,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000882456.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552515.1",
"strand": true,
"transcript": "ENST00000882456.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 508,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 63,
"cds_end": null,
"cds_length": 1527,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000964555.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634614.1",
"strand": true,
"transcript": "ENST00000964555.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 501,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 150,
"cds_end": null,
"cds_length": 1506,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938095.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608154.1",
"strand": true,
"transcript": "ENST00000938095.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 64,
"cds_end": null,
"cds_length": 1488,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938103.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608162.1",
"strand": true,
"transcript": "ENST00000938103.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 71,
"cds_end": null,
"cds_length": 1461,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001306154.2",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293083.1",
"strand": true,
"transcript": "NM_001306154.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 135,
"cds_end": null,
"cds_length": 1461,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000515390.5",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426923.1",
"strand": true,
"transcript": "ENST00000515390.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 479,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 108,
"cds_end": null,
"cds_length": 1440,
"cds_start": 10,
"consequences": [
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],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938097.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608156.1",
"strand": true,
"transcript": "ENST00000938097.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 446,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1624,
"cdna_start": 63,
"cds_end": null,
"cds_length": 1341,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938104.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608163.1",
"strand": true,
"transcript": "ENST00000938104.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 439,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 63,
"cds_end": null,
"cds_length": 1320,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000882454.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552513.1",
"strand": true,
"transcript": "ENST00000882454.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 433,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1649,
"cdna_start": 63,
"cds_end": null,
"cds_length": 1302,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000882455.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552514.1",
"strand": true,
"transcript": "ENST00000882455.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 424,
"aa_ref": "M",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 132,
"cds_end": null,
"cds_length": 1275,
"cds_start": 10,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938098.1",
"gene_hgnc_id": 1618,
"gene_symbol": "CCT5",
"hgvs_c": "c.10A>C",
"hgvs_p": "p.Met4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608157.1",
"strand": true,
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