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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: 11-111743527-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111743527&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPP2R1B",
"hgnc_id": 9303,
"hgvs_c": "c.1403A>C",
"hgvs_p": "p.Tyr468Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_181699.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8172,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.06,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6726438999176025,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 601,
"aa_ref": "Y",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5553,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_002716.5",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1403A>C",
"hgvs_p": "p.Tyr468Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000527614.6",
"protein_coding": true,
"protein_id": "NP_002707.3",
"strand": false,
"transcript": "NM_002716.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 601,
"aa_ref": "Y",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5553,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000527614.6",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1403A>C",
"hgvs_p": "p.Tyr468Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002716.5",
"protein_coding": true,
"protein_id": "ENSP00000437193.1",
"strand": false,
"transcript": "ENST00000527614.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 667,
"aa_ref": "Y",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000311129.9",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1403A>C",
"hgvs_p": "p.Tyr468Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311344.5",
"strand": false,
"transcript": "ENST00000311129.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 667,
"aa_ref": "Y",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_181699.3",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1403A>C",
"hgvs_p": "p.Tyr468Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_859050.1",
"strand": false,
"transcript": "NM_181699.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 603,
"aa_ref": "Y",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_181700.2",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1211A>C",
"hgvs_p": "p.Tyr404Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_859051.1",
"strand": false,
"transcript": "NM_181700.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 603,
"aa_ref": "Y",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000426998.6",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1211A>C",
"hgvs_p": "p.Tyr404Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410671.2",
"strand": false,
"transcript": "ENST00000426998.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 582,
"aa_ref": "Y",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4797,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925452.1",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1346A>C",
"hgvs_p": "p.Tyr449Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595511.1",
"strand": false,
"transcript": "ENST00000925452.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 564,
"aa_ref": "Y",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2884,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000876846.1",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1292A>C",
"hgvs_p": "p.Tyr431Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546905.1",
"strand": false,
"transcript": "ENST00000876846.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "Y",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5418,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001177562.2",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1268A>C",
"hgvs_p": "p.Tyr423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171033.1",
"strand": false,
"transcript": "NM_001177562.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "Y",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000341980.10",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1268A>C",
"hgvs_p": "p.Tyr423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343317.6",
"strand": false,
"transcript": "ENST00000341980.10",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "Y",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1247,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000876848.1",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1247A>C",
"hgvs_p": "p.Tyr416Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546907.1",
"strand": false,
"transcript": "ENST00000876848.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 537,
"aa_ref": "Y",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000876847.1",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1211A>C",
"hgvs_p": "p.Tyr404Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546906.1",
"strand": false,
"transcript": "ENST00000876847.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 537,
"aa_ref": "Y",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000925456.1",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1211A>C",
"hgvs_p": "p.Tyr404Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595515.1",
"strand": false,
"transcript": "ENST00000925456.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 500,
"aa_ref": "Y",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925455.1",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1100A>C",
"hgvs_p": "p.Tyr367Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595514.1",
"strand": false,
"transcript": "ENST00000925455.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 498,
"aa_ref": "Y",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1094,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000876845.1",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1094A>C",
"hgvs_p": "p.Tyr365Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546904.1",
"strand": false,
"transcript": "ENST00000876845.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 492,
"aa_ref": "Y",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3933,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000925453.1",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1076A>C",
"hgvs_p": "p.Tyr359Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595512.1",
"strand": false,
"transcript": "ENST00000925453.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3902,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1061,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000925454.1",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1061A>C",
"hgvs_p": "p.Tyr354Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595513.1",
"strand": false,
"transcript": "ENST00000925454.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 474,
"aa_ref": "Y",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5172,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001177563.2",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1022A>C",
"hgvs_p": "p.Tyr341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171034.1",
"strand": false,
"transcript": "NM_001177563.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1525,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000393055.6",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.1022A>C",
"hgvs_p": "p.Tyr341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376775.2",
"strand": false,
"transcript": "ENST00000393055.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 442,
"aa_ref": "Y",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1329,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876849.1",
"gene_hgnc_id": 9303,
"gene_symbol": "PPP2R1B",
"hgvs_c": "c.926A>C",
"hgvs_p": "p.Tyr309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546908.1",
"strand": false,
"transcript": "ENST00000876849.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 688,
"aa_ref": "Y",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047427196.1",
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