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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: 10-18527668-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=18527668&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 18527668,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000324631.13",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1025T>C",
"hgvs_p": "p.Ile342Thr",
"transcript": "NM_201596.3",
"protein_id": "NP_963890.2",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 660,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": "ENST00000324631.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1025T>C",
"hgvs_p": "p.Ile342Thr",
"transcript": "ENST00000324631.13",
"protein_id": "ENSP00000320025.8",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 660,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": "NM_201596.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "NM_201590.3",
"protein_id": "NP_963884.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 606,
"cds_start": 863,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": "ENST00000377329.10",
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "ENST00000377329.10",
"protein_id": "ENSP00000366546.4",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 606,
"cds_start": 863,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": "NM_201590.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.953T>C",
"hgvs_p": "p.Ile318Thr",
"transcript": "ENST00000352115.10",
"protein_id": "ENSP00000344474.6",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 636,
"cds_start": 953,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.941T>C",
"hgvs_p": "p.Ile314Thr",
"transcript": "ENST00000282343.13",
"protein_id": "ENSP00000282343.8",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 632,
"cds_start": 941,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.881T>C",
"hgvs_p": "p.Ile294Thr",
"transcript": "ENST00000377315.6",
"protein_id": "ENSP00000366532.4",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 612,
"cds_start": 881,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.860T>C",
"hgvs_p": "p.Ile287Thr",
"transcript": "ENST00000396576.6",
"protein_id": "ENSP00000379821.2",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 605,
"cds_start": 860,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Ile249Thr",
"transcript": "ENST00000377319.9",
"protein_id": "ENSP00000366536.3",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 567,
"cds_start": 746,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Ile249Thr",
"transcript": "ENST00000377331.8",
"protein_id": "ENSP00000366548.4",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 528,
"cds_start": 746,
"cds_end": null,
"cds_length": 1589,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.457-8433T>C",
"hgvs_p": null,
"transcript": "ENST00000377328.5",
"protein_id": "ENSP00000366545.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240291",
"gene_hgnc_id": 58168,
"hgvs_c": "n.482+11526A>G",
"hgvs_p": null,
"transcript": "ENST00000425669.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.953T>C",
"hgvs_p": "p.Ile318Thr",
"transcript": "NM_201597.3",
"protein_id": "NP_963891.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 636,
"cds_start": 953,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 6057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.941T>C",
"hgvs_p": "p.Ile314Thr",
"transcript": "NM_201571.4",
"protein_id": "NP_963865.2",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 632,
"cds_start": 941,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 6488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Ile304Thr",
"transcript": "NM_201593.3",
"protein_id": "NP_963887.2",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 622,
"cds_start": 911,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.881T>C",
"hgvs_p": "p.Ile294Thr",
"transcript": "NM_201570.3",
"protein_id": "NP_963864.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 612,
"cds_start": 881,
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"cdna_start": 1338,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.869T>C",
"hgvs_p": "p.Ile290Thr",
"transcript": "NM_201572.4",
"protein_id": "NP_963866.2",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 608,
"cds_start": 869,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.869T>C",
"hgvs_p": "p.Ile290Thr",
"transcript": "ENST00000645287.2",
"protein_id": "ENSP00000496203.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 608,
"cds_start": 869,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.860T>C",
"hgvs_p": "p.Ile287Thr",
"transcript": "NM_000724.4",
"protein_id": "NP_000715.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 605,
"cds_start": 860,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Ile282Thr",
"transcript": "ENST00000652391.1",
"protein_id": "ENSP00000498938.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 600,
"cds_start": 845,
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"cdna_start": 992,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.827T>C",
"hgvs_p": "p.Ile276Thr",
"transcript": "NM_001167945.2",
"protein_id": "NP_001161417.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 594,
"cds_start": 827,
"cds_end": null,
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"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 6374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.827T>C",
"hgvs_p": "p.Ile276Thr",
"transcript": "ENST00000643096.2",
"protein_id": "ENSP00000494209.2",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 583,
"cds_start": 827,
"cds_end": null,
"cds_length": 1753,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.788T>C",
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"transcript": "ENST00000425669.1",
"gene_symbol": "ENSG00000240291",
"hgnc_id": 58168,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.482+11526A>G",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007062076.1",
"gene_symbol": "CACNB2-AS1",
"hgnc_id": 58168,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.84-8838A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Brugada syndrome 4,Cardiovascular phenotype",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Brugada syndrome 4|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}