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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: 10-96019732-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=96019732&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CC2D2B",
"hgnc_id": 31666,
"hgvs_c": "c.3796C>T",
"hgvs_p": "p.Pro1266Ser",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001349008.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENTPD1-AS1",
"hgnc_id": 45203,
"hgvs_c": "n.2274G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000458228.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.4696,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8162705898284912,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "P",
"aa_start": 1266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6157,
"cdna_start": 3902,
"cds_end": null,
"cds_length": 4314,
"cds_start": 3796,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001349008.3",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3796C>T",
"hgvs_p": "p.Pro1266Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000646931.3",
"protein_coding": true,
"protein_id": "NP_001335937.1",
"strand": true,
"transcript": "NM_001349008.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "P",
"aa_start": 1266,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6157,
"cdna_start": 3902,
"cds_end": null,
"cds_length": 4314,
"cds_start": 3796,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000646931.3",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3796C>T",
"hgvs_p": "p.Pro1266Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001349008.3",
"protein_coding": true,
"protein_id": "ENSP00000496666.2",
"strand": true,
"transcript": "ENST00000646931.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000344386.4",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "n.852C>T",
"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": "ENST00000344386.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3286,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000458228.6",
"gene_hgnc_id": 45203,
"gene_symbol": "ENTPD1-AS1",
"hgvs_c": "n.2274G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000458228.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "P",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 2966,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2896,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000636965.1",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.2896C>T",
"hgvs_p": "p.Pro966Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490447.1",
"strand": true,
"transcript": "ENST00000636965.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 401,
"aa_ref": "P",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1206,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001159747.2",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Pro230Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153219.1",
"strand": true,
"transcript": "NM_001159747.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 322,
"aa_ref": "P",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 969,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001001732.4",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.688C>T",
"hgvs_p": "p.Pro230Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001732.2",
"strand": true,
"transcript": "NM_001001732.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "P",
"aa_start": 1266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6165,
"cdna_start": 3910,
"cds_end": null,
"cds_length": 4314,
"cds_start": 3796,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_024447995.2",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3796C>T",
"hgvs_p": "p.Pro1266Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303763.1",
"strand": true,
"transcript": "XM_024447995.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "P",
"aa_start": 1258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6213,
"cdna_start": 3958,
"cds_end": null,
"cds_length": 4290,
"cds_start": 3772,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_024447996.2",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3772C>T",
"hgvs_p": "p.Pro1258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303764.1",
"strand": true,
"transcript": "XM_024447996.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1399,
"aa_ref": "P",
"aa_start": 1228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 3788,
"cds_end": null,
"cds_length": 4200,
"cds_start": 3682,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_024447998.2",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3682C>T",
"hgvs_p": "p.Pro1228Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303766.1",
"strand": true,
"transcript": "XM_024447998.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "P",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6028,
"cdna_start": 3773,
"cds_end": null,
"cds_length": 4185,
"cds_start": 3667,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_024447999.2",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3667C>T",
"hgvs_p": "p.Pro1223Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303767.1",
"strand": true,
"transcript": "XM_024447999.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1376,
"aa_ref": "P",
"aa_start": 1205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5974,
"cdna_start": 3719,
"cds_end": null,
"cds_length": 4131,
"cds_start": 3613,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_024448001.2",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3613C>T",
"hgvs_p": "p.Pro1205Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303769.1",
"strand": true,
"transcript": "XM_024448001.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "P",
"aa_start": 1266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 3902,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3796,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_024448002.2",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3796C>T",
"hgvs_p": "p.Pro1266Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303770.1",
"strand": true,
"transcript": "XM_024448002.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1297,
"aa_ref": "P",
"aa_start": 1266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4703,
"cdna_start": 3902,
"cds_end": null,
"cds_length": 3894,
"cds_start": 3796,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_024448003.2",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3796C>T",
"hgvs_p": "p.Pro1266Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303771.1",
"strand": true,
"transcript": "XM_024448003.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "P",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5680,
"cdna_start": 3425,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3319,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_024448004.2",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3319C>T",
"hgvs_p": "p.Pro1107Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303772.1",
"strand": true,
"transcript": "XM_024448004.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1250,
"aa_ref": "P",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5596,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 3753,
"cds_start": 3235,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_011539789.4",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3235C>T",
"hgvs_p": "p.Pro1079Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538091.2",
"strand": true,
"transcript": "XM_011539789.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1160,
"aa_ref": "P",
"aa_start": 989,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5338,
"cdna_start": 3083,
"cds_end": null,
"cds_length": 3483,
"cds_start": 2965,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047425225.1",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.2965C>T",
"hgvs_p": "p.Pro989Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281181.1",
"strand": true,
"transcript": "XM_047425225.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1101,
"aa_ref": "P",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5141,
"cdna_start": 2886,
"cds_end": null,
"cds_length": 3306,
"cds_start": 2788,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047425226.1",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.2788C>T",
"hgvs_p": "p.Pro930Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281182.1",
"strand": true,
"transcript": "XM_047425226.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1063,
"aa_ref": "P",
"aa_start": 892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5205,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 3192,
"cds_start": 2674,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047425227.1",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.2674C>T",
"hgvs_p": "p.Pro892Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281183.1",
"strand": true,
"transcript": "XM_047425227.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1156,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5314,
"cdna_start": null,
"cds_end": null,
"cds_length": 3471,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448005.2",
"gene_hgnc_id": 31666,
"gene_symbol": "CC2D2B",
"hgvs_c": "c.3046-5121C>T",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303773.1",
"strand": true,
"transcript": "XM_024448005.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
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