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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: 2-127639368-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127639368&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LIMS2",
"hgnc_id": 16084,
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Pro337Pro",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_017980.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2W",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14100000262260437,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 341,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1026,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001161403.3",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Pro313Pro",
"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": "P",
"aa_end": null,
"aa_length": 341,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1026,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000355119.9",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Pro313Pro",
"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": "P",
"aa_end": null,
"aa_length": 365,
"aa_ref": "P",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1011,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000324938.9",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Pro337Pro",
"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": "P",
"aa_end": null,
"aa_length": 336,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 1011,
"cds_start": 924,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409455.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Pro308Pro",
"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": "P",
"aa_end": null,
"aa_length": 336,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 1011,
"cds_start": 924,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000410011.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Pro308Pro",
"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": "P",
"aa_end": null,
"aa_length": 189,
"aa_ref": "P",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 678,
"cds_end": null,
"cds_length": 570,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000409754.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Pro161Pro",
"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": "P",
"aa_end": null,
"aa_length": 514,
"aa_ref": "P",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 1952,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1458,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855737.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1458G>A",
"hgvs_p": "p.Pro486Pro",
"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": "P",
"aa_end": null,
"aa_length": 477,
"aa_ref": "P",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1347,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855740.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1347G>A",
"hgvs_p": "p.Pro449Pro",
"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": "P",
"aa_end": null,
"aa_length": 473,
"aa_ref": "P",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1335,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855742.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1335G>A",
"hgvs_p": "p.Pro445Pro",
"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": "P",
"aa_end": null,
"aa_length": 420,
"aa_ref": "P",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1176,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000957032.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Pro392Pro",
"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": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1200,
"cds_start": 1113,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000957031.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1113G>A",
"hgvs_p": "p.Pro371Pro",
"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": "P",
"aa_end": null,
"aa_length": 367,
"aa_ref": "P",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 1104,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855738.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Pro339Pro",
"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": "P",
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"aa_length": 365,
"aa_ref": "P",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 1098,
"cds_start": 1011,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_017980.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Pro337Pro",
"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": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1092,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001136037.4",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1005G>A",
"hgvs_p": "p.Pro335Pro",
"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": "P",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1092,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000545738.6",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.1005G>A",
"hgvs_p": "p.Pro335Pro",
"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": "P",
"aa_end": null,
"aa_length": 361,
"aa_ref": "P",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1086,
"cds_start": 999,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000855739.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Pro333Pro",
"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": "P",
"aa_end": null,
"aa_length": 345,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1038,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855741.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Pro317Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525800.1",
"strand": false,
"transcript": "ENST00000855741.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 1011,
"cds_start": 924,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001161404.2",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Pro308Pro",
"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": "P",
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"aa_length": 336,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1011,
"cds_start": 924,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000409808.6",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Pro308Pro",
"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": "P",
"aa_end": null,
"aa_length": 302,
"aa_ref": "P",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 898,
"cds_end": null,
"cds_length": 909,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855743.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.822G>A",
"hgvs_p": "p.Pro274Pro",
"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": "P",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 866,
"cds_end": null,
"cds_length": 903,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855744.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
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{
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}
]
}