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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: 10-18260087-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=18260087&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CACNB2",
"hgnc_id": 1402,
"hgvs_c": "c.213+109112G>A",
"hgvs_p": null,
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_201596.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CACNB2-AS2",
"hgnc_id": 58169,
"hgvs_c": "n.29+1079C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000457058.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 87165,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": null,
"cds_end": null,
"cds_length": 1983,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201596.3",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.213+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324631.13",
"protein_coding": true,
"protein_id": "NP_963890.2",
"strand": true,
"transcript": "NM_201596.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": null,
"cds_end": null,
"cds_length": 1983,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000324631.13",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.213+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_201596.3",
"protein_coding": true,
"protein_id": "ENSP00000320025.8",
"strand": true,
"transcript": "ENST00000324631.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 636,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": null,
"cds_end": null,
"cds_length": 1911,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000352115.10",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.213+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344474.6",
"strand": true,
"transcript": "ENST00000352115.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 632,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": null,
"cds_end": null,
"cds_length": 1899,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000282343.13",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.129+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000282343.8",
"strand": true,
"transcript": "ENST00000282343.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1233,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377328.5",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.213+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366545.1",
"strand": true,
"transcript": "ENST00000377328.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 636,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6057,
"cdna_start": null,
"cds_end": null,
"cds_length": 1911,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201597.3",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.213+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963891.1",
"strand": true,
"transcript": "NM_201597.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 632,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6488,
"cdna_start": null,
"cds_end": null,
"cds_length": 1899,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201571.4",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.129+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963865.2",
"strand": true,
"transcript": "NM_201571.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201593.3",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.213+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963887.2",
"strand": true,
"transcript": "NM_201593.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 608,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6416,
"cdna_start": null,
"cds_end": null,
"cds_length": 1827,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201572.4",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.129+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963866.2",
"strand": true,
"transcript": "NM_201572.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 608,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6104,
"cdna_start": null,
"cds_end": null,
"cds_length": 1827,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645287.2",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.129+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496203.1",
"strand": true,
"transcript": "ENST00000645287.2",
"transcript_support_level": null
},
{
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"aa_length": 594,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6374,
"cdna_start": null,
"cds_end": null,
"cds_length": 1785,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001167945.2",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.129+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001161417.1",
"strand": true,
"transcript": "NM_001167945.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2120,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000643096.2",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.129+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000494209.2",
"strand": true,
"transcript": "ENST00000643096.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "XM_047425725.1",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.213+109112G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281681.1",
"strand": true,
"transcript": "XM_047425725.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457058.1",
"gene_hgnc_id": 58169,
"gene_symbol": "CACNB2-AS2",
"hgvs_c": "n.29+1079C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000457058.1",
"transcript_support_level": 3
},
{
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"biotype": "pseudogene",
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000625812.2",
"gene_hgnc_id": 58169,
"gene_symbol": "CACNB2-AS2",
"hgvs_c": "n.27+1079C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000625812.2",
"transcript_support_level": 5
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 695,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 2,
"exon_rank": null,
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"feature": "ENST00000626127.2",
"gene_hgnc_id": 58169,
"gene_symbol": "CACNB2-AS2",
"hgvs_c": "n.27+1079C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000626127.2",
"transcript_support_level": 5
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 769,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 2,
"exon_rank": null,
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"feature": "ENST00000627265.1",
"gene_hgnc_id": 58169,
"gene_symbol": "CACNB2-AS2",
"hgvs_c": "n.27+1079C>T",
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"strand": false,
"transcript": "ENST00000627265.1",
"transcript_support_level": 5
},
{
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"biotype": "nonsense_mediated_decay",
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000644004.1",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "n.129+109112G>A",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000495509.1",
"strand": true,
"transcript": "ENST00000644004.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"consequences": [
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],
"exon_count": 2,
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"feature": "ENST00000659113.1",
"gene_hgnc_id": 58169,
"gene_symbol": "CACNB2-AS2",
"hgvs_c": "n.339+1079C>T",
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"mane_plus": null,
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"protein_coding": false,
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"strand": false,
"transcript": "ENST00000659113.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000789259.1",
"gene_hgnc_id": 58169,
"gene_symbol": "CACNB2-AS2",
"hgvs_c": "n.124+1079C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000789259.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 882,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000789260.1",
"gene_hgnc_id": 58169,
"gene_symbol": "CACNB2-AS2",
"hgvs_c": "n.251+1079C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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