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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: 2-127642176-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127642176&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LIMS2",
"hgnc_id": 16084,
"hgvs_c": "c.605G>A",
"hgvs_p": "p.Arg202His",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_017980.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 225,
"alphamissense_prediction": null,
"alphamissense_score": 0.7917,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2W,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8132155537605286,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 341,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1026,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001161403.3",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"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": "H",
"aa_end": null,
"aa_length": 341,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1026,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000355119.9",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"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": "H",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1098,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000324938.9",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.605G>A",
"hgvs_p": "p.Arg202His",
"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": "H",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 1011,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409455.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"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": "H",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1011,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000410011.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"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": "H",
"aa_end": null,
"aa_length": 189,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 272,
"cds_end": null,
"cds_length": 570,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000409754.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26His",
"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": "H",
"aa_end": null,
"aa_length": 514,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1545,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855737.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"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": "H",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1434,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855740.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"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": "H",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1422,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855742.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"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": "H",
"aa_end": null,
"aa_length": 420,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 564,
"cds_end": null,
"cds_length": 1263,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000957032.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"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": "H",
"aa_end": null,
"aa_length": 399,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1200,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000957031.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"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": "H",
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"aa_length": 367,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1104,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855738.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"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": "H",
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"aa_length": 365,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1098,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_017980.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.605G>A",
"hgvs_p": "p.Arg202His",
"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": "H",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1092,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001136037.4",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Arg200His",
"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": "H",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1092,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000545738.6",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Arg200His",
"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": "H",
"aa_end": null,
"aa_length": 361,
"aa_ref": "R",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 294,
"cds_end": null,
"cds_length": 1086,
"cds_start": 185,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855739.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"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": "H",
"aa_end": null,
"aa_length": 345,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1038,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855741.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"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": "H",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1011,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001161404.2",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"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": "H",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1011,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000409808.6",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"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": "H",
"aa_end": null,
"aa_length": 302,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 492,
"cds_end": null,
"cds_length": 909,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000855743.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139His",
"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": "H",
"aa_end": null,
"aa_length": 189,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 391,
"cds_end": null,
"cds_length": 570,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001256542.2",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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],
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}
],
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}
]
}