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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: 2-86251978-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86251978&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86251978,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001371279.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "NM_001371279.1",
"protein_id": "NP_001358208.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 284,
"cds_start": 396,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000538924.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371279.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "ENST00000538924.7",
"protein_id": "ENSP00000438346.3",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 284,
"cds_start": 396,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371279.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538924.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "ENST00000165698.9",
"protein_id": "ENSP00000165698.5",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 201,
"cds_start": 396,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000165698.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "ENST00000908467.1",
"protein_id": "ENSP00000578526.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 322,
"cds_start": 396,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908467.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.354G>A",
"hgvs_p": "p.Ala118Ala",
"transcript": "ENST00000642243.1",
"protein_id": "ENSP00000494960.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 320,
"cds_start": 354,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642243.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "ENST00000943694.1",
"protein_id": "ENSP00000613753.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 289,
"cds_start": 396,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943694.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.354G>A",
"hgvs_p": "p.Ala118Ala",
"transcript": "ENST00000644644.1",
"protein_id": "ENSP00000494305.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 287,
"cds_start": 354,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644644.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "NM_001410855.1",
"protein_id": "NP_001397784.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 272,
"cds_start": 396,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410855.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "ENST00000643817.2",
"protein_id": "ENSP00000495610.2",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 272,
"cds_start": 396,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643817.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "ENST00000908468.1",
"protein_id": "ENSP00000578527.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 253,
"cds_start": 396,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908468.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.315G>A",
"hgvs_p": "p.Ala105Ala",
"transcript": "ENST00000686220.1",
"protein_id": "ENSP00000509904.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 223,
"cds_start": 315,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686220.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "NM_001410856.1",
"protein_id": "NP_001397785.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 213,
"cds_start": 396,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410856.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "ENST00000691703.1",
"protein_id": "ENSP00000508496.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 213,
"cds_start": 396,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691703.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.417G>A",
"hgvs_p": "p.Ala139Ala",
"transcript": "NM_001164730.2",
"protein_id": "NP_001158202.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 208,
"cds_start": 417,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164730.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.417G>A",
"hgvs_p": "p.Ala139Ala",
"transcript": "ENST00000453231.6",
"protein_id": "ENSP00000392197.2",
"transcript_support_level": 2,
"aa_start": 139,
"aa_end": null,
"aa_length": 208,
"cds_start": 417,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453231.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "NM_022912.3",
"protein_id": "NP_075063.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 201,
"cds_start": 396,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022912.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.315G>A",
"hgvs_p": "p.Ala105Ala",
"transcript": "NM_001164731.2",
"protein_id": "NP_001158203.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 174,
"cds_start": 315,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164731.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.315G>A",
"hgvs_p": "p.Ala105Ala",
"transcript": "ENST00000535845.6",
"protein_id": "ENSP00000437567.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 174,
"cds_start": 315,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535845.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "NM_001371280.1",
"protein_id": "NP_001358209.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 162,
"cds_start": 396,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371280.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ala132Ala",
"transcript": "ENST00000689156.1",
"protein_id": "ENSP00000509143.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 162,
"cds_start": 396,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689156.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.246G>A",
"hgvs_p": "p.Ala82Ala",
"transcript": "ENST00000692664.1",
"protein_id": "ENSP00000508656.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 151,
"cds_start": 246,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692664.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Ala110Ala",
"transcript": "ENST00000489855.2",
"protein_id": "ENSP00000475269.1",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 146,
"cds_start": 330,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489855.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.591,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001371279.1",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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}
],
"clinvar_disease": "Hereditary spastic paraplegia 31,Inborn genetic diseases,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not provided|Inborn genetic diseases|Hereditary spastic paraplegia 31",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}