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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: 2-127640138-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127640138&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LIMS2",
"hgnc_id": 16084,
"hgvs_c": "c.882G>C",
"hgvs_p": "p.Ser294Ser",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_017980.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 56,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08399999886751175,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 341,
"aa_ref": "S",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1026,
"cds_start": 810,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001161403.3",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.810G>C",
"hgvs_p": "p.Ser270Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355119.9",
"protein_coding": true,
"protein_id": "NP_001154875.1",
"strand": false,
"transcript": "NM_001161403.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 341,
"aa_ref": "S",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1026,
"cds_start": 810,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000355119.9",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.810G>C",
"hgvs_p": "p.Ser270Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001161403.3",
"protein_coding": true,
"protein_id": "ENSP00000347240.4",
"strand": false,
"transcript": "ENST00000355119.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 365,
"aa_ref": "S",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 1098,
"cds_start": 882,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000324938.9",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.882G>C",
"hgvs_p": "p.Ser294Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326888.5",
"strand": false,
"transcript": "ENST00000324938.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1011,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000409455.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.795G>C",
"hgvs_p": "p.Ser265Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386383.1",
"strand": false,
"transcript": "ENST00000409455.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1011,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000410011.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.795G>C",
"hgvs_p": "p.Ser265Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387002.1",
"strand": false,
"transcript": "ENST00000410011.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 189,
"aa_ref": "S",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 549,
"cds_end": null,
"cds_length": 570,
"cds_start": 354,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000409754.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.354G>C",
"hgvs_p": "p.Ser118Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386345.1",
"strand": false,
"transcript": "ENST00000409754.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1329,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855737.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1329G>C",
"hgvs_p": "p.Ser443Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525796.1",
"strand": false,
"transcript": "ENST00000855737.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 477,
"aa_ref": "S",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1218,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855740.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1218G>C",
"hgvs_p": "p.Ser406Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525799.1",
"strand": false,
"transcript": "ENST00000855740.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 473,
"aa_ref": "S",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1206,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855742.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1206G>C",
"hgvs_p": "p.Ser402Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525801.1",
"strand": false,
"transcript": "ENST00000855742.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 420,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1047,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000957032.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1047G>C",
"hgvs_p": "p.Ser349Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627091.1",
"strand": false,
"transcript": "ENST00000957032.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 399,
"aa_ref": "S",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1200,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000957031.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Ser328Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627090.1",
"strand": false,
"transcript": "ENST00000957031.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1104,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855738.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.888G>C",
"hgvs_p": "p.Ser296Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525797.1",
"strand": false,
"transcript": "ENST00000855738.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 365,
"aa_ref": "S",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1098,
"cds_start": 882,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_017980.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.882G>C",
"hgvs_p": "p.Ser294Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060450.2",
"strand": false,
"transcript": "NM_017980.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 363,
"aa_ref": "S",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1092,
"cds_start": 876,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001136037.4",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.876G>C",
"hgvs_p": "p.Ser292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129509.2",
"strand": false,
"transcript": "NM_001136037.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 363,
"aa_ref": "S",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1092,
"cds_start": 876,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000545738.6",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.876G>C",
"hgvs_p": "p.Ser292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443794.2",
"strand": false,
"transcript": "ENST00000545738.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 361,
"aa_ref": "S",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1086,
"cds_start": 870,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855739.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.870G>C",
"hgvs_p": "p.Ser290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525798.1",
"strand": false,
"transcript": "ENST00000855739.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 345,
"aa_ref": "S",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1038,
"cds_start": 810,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855741.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.810G>C",
"hgvs_p": "p.Ser270Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525800.1",
"strand": false,
"transcript": "ENST00000855741.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1011,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001161404.2",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.795G>C",
"hgvs_p": "p.Ser265Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001154876.1",
"strand": false,
"transcript": "NM_001161404.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1011,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000409808.6",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.795G>C",
"hgvs_p": "p.Ser265Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386637.2",
"strand": false,
"transcript": "ENST00000409808.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 302,
"aa_ref": "S",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 769,
"cds_end": null,
"cds_length": 909,
"cds_start": 693,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000855743.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.693G>C",
"hgvs_p": "p.Ser231Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525802.1",
"strand": false,
"transcript": "ENST00000855743.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "S",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 737,
"cds_end": null,
"cds_length": 903,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000855744.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.687G>C",
"hgvs_p": "p.Ser229Ser",
"intron_rank": null,
"intron_rank_end": null,
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