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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: 19-48713542-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48713542&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAMSTR",
"hgnc_id": 26689,
"hgvs_c": "c.973C>A",
"hgvs_p": "p.Pro325Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001130915.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2086,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.30412209033966064,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 415,
"aa_ref": "P",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1248,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001130915.2",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.973C>A",
"hgvs_p": "p.Pro325Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318083.11",
"protein_coding": true,
"protein_id": "NP_001124387.1",
"strand": false,
"transcript": "NM_001130915.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 415,
"aa_ref": "P",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1248,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000318083.11",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.973C>A",
"hgvs_p": "p.Pro325Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130915.2",
"protein_coding": true,
"protein_id": "ENSP00000324175.5",
"strand": false,
"transcript": "ENST00000318083.11",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 247,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 744,
"cds_start": 469,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000594582.1",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.469C>A",
"hgvs_p": "p.Pro157Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471590.1",
"strand": false,
"transcript": "ENST00000594582.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 465,
"aa_ref": "P",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2982,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000599703.2",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.1123C>A",
"hgvs_p": "p.Pro375Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469544.2",
"strand": false,
"transcript": "ENST00000599703.2",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 312,
"aa_ref": "P",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 939,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_182574.3",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.664C>A",
"hgvs_p": "p.Pro222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_872380.1",
"strand": false,
"transcript": "NM_182574.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 312,
"aa_ref": "P",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 939,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000356751.8",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.664C>A",
"hgvs_p": "p.Pro222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349192.3",
"strand": false,
"transcript": "ENST00000356751.8",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 247,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1691,
"cdna_start": 874,
"cds_end": null,
"cds_length": 744,
"cds_start": 469,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001297753.2",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.469C>A",
"hgvs_p": "p.Pro157Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284682.1",
"strand": false,
"transcript": "NM_001297753.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 496,
"aa_ref": "P",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017026640.2",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.1216C>A",
"hgvs_p": "p.Pro406Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882129.1",
"strand": false,
"transcript": "XM_017026640.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017026641.2",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Pro393Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882130.1",
"strand": false,
"transcript": "XM_017026641.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "P",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011526808.3",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.1162C>A",
"hgvs_p": "p.Pro388Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525110.1",
"strand": false,
"transcript": "XM_011526808.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 443,
"aa_ref": "P",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017026643.2",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.Pro353Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882132.1",
"strand": false,
"transcript": "XM_017026643.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 433,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017026644.2",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Pro343Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882133.1",
"strand": false,
"transcript": "XM_017026644.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 425,
"aa_ref": "P",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047438641.1",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.1003C>A",
"hgvs_p": "p.Pro335Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294597.1",
"strand": false,
"transcript": "XM_047438641.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 418,
"aa_ref": "P",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1257,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_024451461.2",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.982C>A",
"hgvs_p": "p.Pro328Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307229.1",
"strand": false,
"transcript": "XM_024451461.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 368,
"aa_ref": "P",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 1472,
"cds_end": null,
"cds_length": 1107,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047438642.1",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.832C>A",
"hgvs_p": "p.Pro278Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294598.1",
"strand": false,
"transcript": "XM_047438642.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 350,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1053,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047438643.1",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.778C>A",
"hgvs_p": "p.Pro260Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294599.1",
"strand": false,
"transcript": "XM_047438643.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 312,
"aa_ref": "P",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 939,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011526807.3",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.664C>A",
"hgvs_p": "p.Pro222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525109.1",
"strand": false,
"transcript": "XM_011526807.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 247,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 906,
"cds_end": null,
"cds_length": 744,
"cds_start": 469,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011526809.3",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.469C>A",
"hgvs_p": "p.Pro157Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525111.1",
"strand": false,
"transcript": "XM_011526809.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 247,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": null,
"cds_end": null,
"cds_length": 744,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438640.1",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "c.600+318C>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294596.1",
"strand": false,
"transcript": "XM_047438640.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000850646.1",
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"hgvs_c": "n.500C>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": "ENST00000850646.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs562969140",
"effect": "missense_variant",
"frequency_reference_population": 6.8580897e-7,
"gene_hgnc_id": 26689,
"gene_symbol": "MAMSTR",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85809e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.988,
"pos": 48713542,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.096,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001130915.2"
}
]
}