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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: 4-184694614-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=184694614&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 184694614,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001345891.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Gly506Gly",
"transcript": "NM_152683.4",
"protein_id": "NP_689896.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 560,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314970.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152683.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Gly506Gly",
"transcript": "ENST00000314970.11",
"protein_id": "ENSP00000313816.6",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 560,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152683.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314970.11"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1515T>C",
"hgvs_p": "p.Gly505Gly",
"transcript": "ENST00000512834.5",
"protein_id": "ENSP00000425316.1",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 559,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512834.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1131T>C",
"hgvs_p": "p.Gly377Gly",
"transcript": "ENST00000515774.5",
"protein_id": "ENSP00000421913.1",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 431,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515774.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPU",
"gene_hgnc_id": 21348,
"hgvs_c": "c.*674A>G",
"hgvs_p": null,
"transcript": "NM_024629.4",
"protein_id": "NP_078905.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281453.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024629.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPU",
"gene_hgnc_id": 21348,
"hgvs_c": "c.*674A>G",
"hgvs_p": null,
"transcript": "ENST00000281453.10",
"protein_id": "ENSP00000281453.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024629.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281453.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "n.*703T>C",
"hgvs_p": null,
"transcript": "ENST00000509002.5",
"protein_id": "ENSP00000423353.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509002.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "n.*703T>C",
"hgvs_p": null,
"transcript": "ENST00000509002.5",
"protein_id": "ENSP00000423353.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509002.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Gly519Gly",
"transcript": "NM_001345891.2",
"protein_id": "NP_001332820.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 573,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345891.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Gly519Gly",
"transcript": "ENST00000868776.1",
"protein_id": "ENSP00000538835.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 573,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868776.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Gly519Gly",
"transcript": "ENST00000868777.1",
"protein_id": "ENSP00000538836.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 573,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868777.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1557T>C",
"hgvs_p": "p.Gly519Gly",
"transcript": "ENST00000868779.1",
"protein_id": "ENSP00000538838.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 573,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868779.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1554T>C",
"hgvs_p": "p.Gly518Gly",
"transcript": "NM_001345892.2",
"protein_id": "NP_001332821.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 572,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345892.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1554T>C",
"hgvs_p": "p.Gly518Gly",
"transcript": "NM_001345893.2",
"protein_id": "NP_001332822.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 572,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345893.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1554T>C",
"hgvs_p": "p.Gly518Gly",
"transcript": "ENST00000868783.1",
"protein_id": "ENSP00000538842.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 572,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868783.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1545T>C",
"hgvs_p": "p.Gly515Gly",
"transcript": "ENST00000966675.1",
"protein_id": "ENSP00000636734.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 569,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966675.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1527T>C",
"hgvs_p": "p.Gly509Gly",
"transcript": "ENST00000868785.1",
"protein_id": "ENSP00000538844.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 563,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868785.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Gly506Gly",
"transcript": "NM_001345895.2",
"protein_id": "NP_001332824.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 560,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345895.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Gly506Gly",
"transcript": "ENST00000503752.5",
"protein_id": "ENSP00000420860.1",
"transcript_support_level": 5,
"aa_start": 506,
"aa_end": null,
"aa_length": 560,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503752.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Gly506Gly",
"transcript": "ENST00000868790.1",
"protein_id": "ENSP00000538849.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 560,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868790.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Gly506Gly",
"transcript": "ENST00000939781.1",
"protein_id": "ENSP00000609840.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 560,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939781.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Gly506Gly",
"transcript": "ENST00000966669.1",
"protein_id": "ENSP00000636728.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 560,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_024629.4",
"gene_symbol": "CENPU",
"hgnc_id": 21348,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*674A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}