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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: 9-2648747-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2648747&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VLDLR",
"hgnc_id": 12698,
"hgvs_c": "c.2041C>G",
"hgvs_p": "p.Leu681Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003383.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0895,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2286577820777893,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 873,
"aa_ref": "L",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9213,
"cdna_start": 2444,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_003383.5",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.2041C>G",
"hgvs_p": "p.Leu681Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382100.8",
"protein_coding": true,
"protein_id": "NP_003374.3",
"strand": true,
"transcript": "NM_003383.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 873,
"aa_ref": "L",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9213,
"cdna_start": 2444,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000382100.8",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.2041C>G",
"hgvs_p": "p.Leu681Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003383.5",
"protein_coding": true,
"protein_id": "ENSP00000371532.2",
"strand": true,
"transcript": "ENST00000382100.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 725,
"aa_ref": "L",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000382099.3",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.1597C>G",
"hgvs_p": "p.Leu533Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371531.3",
"strand": true,
"transcript": "ENST00000382099.3",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 872,
"aa_ref": "L",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5222,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 2619,
"cds_start": 2038,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000947327.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.2038C>G",
"hgvs_p": "p.Leu680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617386.1",
"strand": true,
"transcript": "ENST00000947327.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 861,
"aa_ref": "L",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5437,
"cdna_start": 2696,
"cds_end": null,
"cds_length": 2586,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000916502.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.2089C>G",
"hgvs_p": "p.Leu697Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586561.1",
"strand": true,
"transcript": "ENST00000916502.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 847,
"aa_ref": "L",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5050,
"cdna_start": 2311,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2047,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000947328.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.2047C>G",
"hgvs_p": "p.Leu683Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617387.1",
"strand": true,
"transcript": "ENST00000947328.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 845,
"aa_ref": "L",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9129,
"cdna_start": 2444,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001018056.3",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.2041C>G",
"hgvs_p": "p.Leu681Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018066.1",
"strand": true,
"transcript": "NM_001018056.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 845,
"aa_ref": "L",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5723,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000681306.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.2041C>G",
"hgvs_p": "p.Leu681Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506072.1",
"strand": true,
"transcript": "ENST00000681306.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 833,
"aa_ref": "L",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 2243,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000947330.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.1921C>G",
"hgvs_p": "p.Leu641Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617389.1",
"strand": true,
"transcript": "ENST00000947330.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 832,
"aa_ref": "L",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9090,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1918,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001322225.2",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.1918C>G",
"hgvs_p": "p.Leu640Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309154.1",
"strand": true,
"transcript": "NM_001322225.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 832,
"aa_ref": "L",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1918,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000680746.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.1918C>G",
"hgvs_p": "p.Leu640Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505030.1",
"strand": true,
"transcript": "ENST00000680746.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "L",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1882,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000947329.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Leu628Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617388.1",
"strand": true,
"transcript": "ENST00000947329.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 804,
"aa_ref": "L",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9006,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1918,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001322226.2",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.1918C>G",
"hgvs_p": "p.Leu640Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309155.1",
"strand": true,
"transcript": "NM_001322226.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 804,
"aa_ref": "L",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4666,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1918,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000681618.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.1918C>G",
"hgvs_p": "p.Leu640Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505773.1",
"strand": true,
"transcript": "ENST00000681618.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 772,
"aa_ref": "L",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5176,
"cdna_start": 2437,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1822,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000916501.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.1822C>G",
"hgvs_p": "p.Leu608Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586560.1",
"strand": true,
"transcript": "ENST00000916501.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 604,
"aa_ref": "L",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1816,
"cds_start": 1606,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000680219.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.1606C>G",
"hgvs_p": "p.Leu536Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506614.1",
"strand": true,
"transcript": "ENST00000680219.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 557,
"aa_ref": "L",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1675,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000680296.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "c.1465C>G",
"hgvs_p": "p.Leu489Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506448.1",
"strand": true,
"transcript": "ENST00000680296.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3257,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000679488.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "n.1467C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000679488.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000679718.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "n.1277C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000679718.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4079,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000679750.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "n.1457C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000679750.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000679780.1",
"gene_hgnc_id": 12698,
"gene_symbol": "VLDLR",
"hgvs_c": "n.817C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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