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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: 13-114243884-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=114243884&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 114243884,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003903.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"transcript": "NM_001078645.3",
"protein_id": "NP_001072113.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 620,
"cds_start": 662,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356221.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001078645.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"transcript": "ENST00000356221.8",
"protein_id": "ENSP00000348554.3",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 620,
"cds_start": 662,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001078645.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356221.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Pro220Leu",
"transcript": "ENST00000252457.9",
"protein_id": "ENSP00000252457.5",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 619,
"cds_start": 659,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252457.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Pro127Leu",
"transcript": "ENST00000375308.5",
"protein_id": "ENSP00000364457.1",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 526,
"cds_start": 380,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375308.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Pro127Leu",
"transcript": "ENST00000375310.5",
"protein_id": "ENSP00000364459.1",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 526,
"cds_start": 380,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375310.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Pro127Leu",
"transcript": "ENST00000252458.6",
"protein_id": "ENSP00000252458.6",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 475,
"cds_start": 380,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252458.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"transcript": "NM_003903.5",
"protein_id": "NP_003894.3",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 620,
"cds_start": 662,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003903.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"transcript": "ENST00000360383.7",
"protein_id": "ENSP00000353549.3",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 620,
"cds_start": 662,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360383.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Pro220Leu",
"transcript": "NM_001318517.3",
"protein_id": "NP_001305446.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 619,
"cds_start": 659,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318517.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Pro220Leu",
"transcript": "NM_001330101.2",
"protein_id": "NP_001317030.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 619,
"cds_start": 659,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330101.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Pro220Leu",
"transcript": "ENST00000889274.1",
"protein_id": "ENSP00000559333.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 619,
"cds_start": 659,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889274.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"transcript": "ENST00000889277.1",
"protein_id": "ENSP00000559336.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 618,
"cds_start": 662,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889277.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Pro219Leu",
"transcript": "ENST00000960230.1",
"protein_id": "ENSP00000630289.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 618,
"cds_start": 656,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000960230.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"transcript": "ENST00000889278.1",
"protein_id": "ENSP00000559337.1",
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"cds_start": 662,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889278.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"transcript": "ENST00000889276.1",
"protein_id": "ENSP00000559335.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 578,
"cds_start": 662,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889276.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Pro220Leu",
"transcript": "ENST00000960228.1",
"protein_id": "ENSP00000630287.1",
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"aa_start": 220,
"aa_end": null,
"aa_length": 577,
"cds_start": 659,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960228.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Pro220Leu",
"transcript": "NM_001318518.3",
"protein_id": "NP_001305447.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 568,
"cds_start": 659,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318518.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Pro127Leu",
"transcript": "NM_001330104.2",
"protein_id": "NP_001317033.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 526,
"cds_start": 380,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330104.2"
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Pro127Leu",
"transcript": "NM_001330105.2",
"protein_id": "NP_001317034.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330105.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Pro127Leu",
"transcript": "ENST00000628084.2",
"protein_id": "ENSP00000486027.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
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"cds_start": 380,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628084.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"transcript": "XM_011534851.3",
"protein_id": "XP_011533153.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 569,
"cds_start": 662,
"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": "XM_011534851.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"transcript": "XM_017020830.3",
"protein_id": "XP_016876319.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 569,
"cds_start": 662,
"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": "XM_017020830.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}