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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: 10-96955129-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=96955129&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 96955129,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032440.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "ENST00000371097.8",
"protein_id": "ENSP00000360138.3",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 433,
"cds_start": 509,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371097.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "ENST00000371103.8",
"protein_id": "ENSP00000360144.3",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 433,
"cds_start": 509,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371103.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "ENST00000540664.6",
"protein_id": "ENSP00000443431.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 406,
"cds_start": 509,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540664.6"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.332+2933C>T",
"hgvs_p": null,
"transcript": "NM_001346516.2",
"protein_id": "NP_001333445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1557,
"cds_start": null,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000421806.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346516.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.332+2933C>T",
"hgvs_p": null,
"transcript": "ENST00000421806.4",
"protein_id": "ENSP00000490116.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1557,
"cds_start": null,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001346516.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421806.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Ser330Phe",
"transcript": "ENST00000674725.1",
"protein_id": "ENSP00000502416.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 593,
"cds_start": 989,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674725.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Ser312Phe",
"transcript": "ENST00000676123.1",
"protein_id": "ENSP00000501887.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 575,
"cds_start": 935,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676123.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Ser357Phe",
"transcript": "ENST00000676381.1",
"protein_id": "ENSP00000501937.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 568,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676381.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.884C>T",
"hgvs_p": "p.Ser295Phe",
"transcript": "ENST00000676187.1",
"protein_id": "ENSP00000502316.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 558,
"cds_start": 884,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676187.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ser180Phe",
"transcript": "ENST00000675687.1",
"protein_id": "ENSP00000502138.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 443,
"cds_start": 539,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675687.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "NM_001170765.2",
"protein_id": "NP_001164236.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 433,
"cds_start": 509,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170765.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "NM_032440.4",
"protein_id": "NP_115816.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 433,
"cds_start": 509,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032440.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "ENST00000356016.7",
"protein_id": "ENSP00000348298.2",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 433,
"cds_start": 509,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356016.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "ENST00000675471.1",
"protein_id": "ENSP00000502633.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 433,
"cds_start": 509,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675471.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "ENST00000675537.1",
"protein_id": "ENSP00000501560.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 433,
"cds_start": 509,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675537.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "ENST00000675971.1",
"protein_id": "ENSP00000501639.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 433,
"cds_start": 509,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675971.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "NM_001170766.2",
"protein_id": "NP_001164237.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 406,
"cds_start": 509,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170766.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "ENST00000676414.1",
"protein_id": "ENSP00000502500.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 292,
"cds_start": 509,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676414.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.332+2933C>T",
"hgvs_p": null,
"transcript": "ENST00000874571.1",
"protein_id": "ENSP00000544630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1557,
"cds_start": null,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874571.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.332+2933C>T",
"hgvs_p": null,
"transcript": "ENST00000874572.1",
"protein_id": "ENSP00000544631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1557,
"cds_start": null,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874572.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.332+2933C>T",
"hgvs_p": null,
"transcript": "ENST00000874573.1",
"protein_id": "ENSP00000544632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1557,
"cds_start": null,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874573.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "LCOR",
"gene_hgnc_id": 29503,
"hgvs_c": "c.332+2933C>T",
"hgvs_p": null,
"transcript": "ENST00000931941.1",
"protein_id": "ENSP00000602000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1557,
"cds_start": null,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931941.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"consequences": [
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.901,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
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"acmg_by_gene": [
{
"score": -6,
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"pathogenic_score": 0,
"criteria": [
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"BS2"
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"verdict": "Likely_benign",
"transcript": "NM_032440.4",
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"effects": [
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"inheritance_mode": "AD",
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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
}