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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: 19-11120475-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11120475&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11120475,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000527.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Cys698Tyr",
"transcript": "NM_000527.5",
"protein_id": "NP_000518.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 860,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": "ENST00000558518.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000527.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Cys698Tyr",
"transcript": "ENST00000558518.6",
"protein_id": "ENSP00000454071.1",
"transcript_support_level": 1,
"aa_start": 698,
"aa_end": null,
"aa_length": 860,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": "NM_000527.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558518.6"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Cys784Tyr",
"transcript": "ENST00000252444.10",
"protein_id": "ENSP00000252444.6",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 946,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252444.10"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Cys698Tyr",
"transcript": "ENST00000558013.5",
"protein_id": "ENSP00000453346.1",
"transcript_support_level": 1,
"aa_start": 698,
"aa_end": null,
"aa_length": 858,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558013.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Cys698Tyr",
"transcript": "ENST00000557933.5",
"protein_id": "ENSP00000453557.1",
"transcript_support_level": 5,
"aa_start": 698,
"aa_end": null,
"aa_length": 948,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557933.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2090G>A",
"hgvs_p": "p.Cys697Tyr",
"transcript": "ENST00000913405.1",
"protein_id": "ENSP00000583464.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 859,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 5212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913405.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Cys698Tyr",
"transcript": "NM_001195798.2",
"protein_id": "NP_001182727.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 858,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195798.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Cys698Tyr",
"transcript": "ENST00000856646.1",
"protein_id": "ENSP00000526705.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 834,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856646.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Cys658Tyr",
"transcript": "ENST00000560467.2",
"protein_id": "ENSP00000453513.2",
"transcript_support_level": 3,
"aa_start": 658,
"aa_end": null,
"aa_length": 820,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560467.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Cys657Tyr",
"transcript": "NM_001195799.2",
"protein_id": "NP_001182728.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 819,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195799.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Cys657Tyr",
"transcript": "ENST00000535915.5",
"protein_id": "ENSP00000440520.1",
"transcript_support_level": 2,
"aa_start": 657,
"aa_end": null,
"aa_length": 819,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535915.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Cys698Tyr",
"transcript": "ENST00000856648.1",
"protein_id": "ENSP00000526707.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 803,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856648.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Cys657Tyr",
"transcript": "ENST00000942040.1",
"protein_id": "ENSP00000612099.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 793,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 3696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942040.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000856645.1",
"protein_id": "ENSP00000526704.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 733,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856645.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000913412.1",
"protein_id": "ENSP00000583471.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 731,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 4252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913412.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Cys554Tyr",
"transcript": "ENST00000913410.1",
"protein_id": "ENSP00000583469.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 716,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913410.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000913408.1",
"protein_id": "ENSP00000583467.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 707,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913408.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Cys530Tyr",
"transcript": "NM_001195800.2",
"protein_id": "NP_001182729.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 692,
"cds_start": 1589,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195800.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Cys530Tyr",
"transcript": "ENST00000455727.6",
"protein_id": "ENSP00000397829.2",
"transcript_support_level": 2,
"aa_start": 530,
"aa_end": null,
"aa_length": 692,
"cds_start": 1589,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455727.6"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Cys530Tyr",
"transcript": "ENST00000913406.1",
"protein_id": "ENSP00000583465.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 692,
"cds_start": 1589,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913406.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000913409.1",
"protein_id": "ENSP00000583468.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 676,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 4626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913409.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Cys698Tyr",
"transcript": "XM_011528010.3",
"protein_id": "XP_011526312.1",
"transcript_support_level": null,
"aa_start": 698,
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],
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"dbsnp": "rs879255136",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9961965084075928,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.916,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9865,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.986,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 23,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 23,
"criteria": [
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"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000527.5",
"gene_symbol": "LDLR",
"hgnc_id": 6547,
"effects": [
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],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Cys698Tyr"
}
],
"clinvar_disease": " 1, familial,Cardiovascular phenotype,Familial hypercholesterolemia,Hypercholesterolemia",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:4",
"phenotype_combined": "Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}