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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: 12-57476372-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57476372&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57476372,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001319850.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "NM_032496.4",
"protein_id": "NP_115885.2",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 731,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393791.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032496.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "ENST00000393791.8",
"protein_id": "ENSP00000377380.3",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 731,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032496.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393791.8"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "ENST00000393797.7",
"protein_id": "ENSP00000377386.3",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 750,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393797.7"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.556T>C",
"hgvs_p": "p.Ser186Pro",
"transcript": "ENST00000430041.6",
"protein_id": "ENSP00000397950.2",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 547,
"cds_start": 556,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430041.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "NM_001319850.2",
"protein_id": "NP_001306779.2",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 750,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319850.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "ENST00000906774.1",
"protein_id": "ENSP00000576833.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 750,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906774.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "ENST00000906773.1",
"protein_id": "ENSP00000576832.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 731,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906773.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "ENST00000906775.1",
"protein_id": "ENSP00000576834.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 731,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906775.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "ENST00000948684.1",
"protein_id": "ENSP00000618743.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 731,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948684.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "ENST00000906772.1",
"protein_id": "ENSP00000576831.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 730,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906772.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Ser339Pro",
"transcript": "ENST00000906776.1",
"protein_id": "ENSP00000576835.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 700,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906776.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Ser339Pro",
"transcript": "ENST00000948685.1",
"protein_id": "ENSP00000618744.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 699,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948685.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "ENST00000550288.6",
"protein_id": "ENSP00000473445.2",
"transcript_support_level": 2,
"aa_start": 370,
"aa_end": null,
"aa_length": 657,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550288.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "NM_001080157.2",
"protein_id": "NP_001073626.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 640,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080157.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro",
"transcript": "ENST00000424809.6",
"protein_id": "ENSP00000394307.2",
"transcript_support_level": 2,
"aa_start": 370,
"aa_end": null,
"aa_length": 640,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424809.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.556T>C",
"hgvs_p": "p.Ser186Pro",
"transcript": "NM_001319852.2",
"protein_id": "NP_001306781.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 566,
"cds_start": 556,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319852.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.556T>C",
"hgvs_p": "p.Ser186Pro",
"transcript": "NM_001080156.3",
"protein_id": "NP_001073625.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 547,
"cds_start": 556,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080156.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.556T>C",
"hgvs_p": "p.Ser186Pro",
"transcript": "NM_001367426.1",
"protein_id": "NP_001354355.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 547,
"cds_start": 556,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367426.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.556T>C",
"hgvs_p": "p.Ser186Pro",
"transcript": "NM_001367422.1",
"protein_id": "NP_001354351.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 545,
"cds_start": 556,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367422.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.463T>C",
"hgvs_p": "p.Ser155Pro",
"transcript": "NM_001367423.1",
"protein_id": "NP_001354352.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 516,
"cds_start": 463,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367423.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.556T>C",
"hgvs_p": "p.Ser186Pro",
"transcript": "NM_001367424.1",
"protein_id": "NP_001354353.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 456,
"cds_start": 556,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367424.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP9",
"gene_hgnc_id": 14130,
"hgvs_c": "c.463T>C",
"hgvs_p": "p.Ser155Pro",
"transcript": "NM_001367425.1",
"protein_id": "NP_001354354.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 425,
"cds_start": 463,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"strand": true,
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"biotype": "pseudogene",
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],
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"computational_score_selected": 0.12226349115371704,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.111,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001319850.2",
"gene_symbol": "ARHGAP9",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1108T>C",
"hgvs_p": "p.Ser370Pro"
},
{
"score": -2,
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"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000549133.1",
"gene_symbol": "MARS1",
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"intron_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "n.198+730A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}