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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: 11-129902498-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=129902498&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 129902498,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_020228.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3286G>T",
"hgvs_p": "p.Glu1096*",
"transcript": "NM_199437.2",
"protein_id": "NP_955469.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3286,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360871.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199437.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3286G>T",
"hgvs_p": "p.Glu1096*",
"transcript": "ENST00000360871.8",
"protein_id": "ENSP00000354118.3",
"transcript_support_level": 1,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3286,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199437.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360871.8"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3298G>T",
"hgvs_p": "p.Glu1100*",
"transcript": "ENST00000358825.9",
"protein_id": "ENSP00000351686.5",
"transcript_support_level": 1,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358825.9"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3040G>T",
"hgvs_p": "p.Glu1014*",
"transcript": "ENST00000526082.5",
"protein_id": "ENSP00000432237.1",
"transcript_support_level": 1,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1074,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526082.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3001G>T",
"hgvs_p": "p.Glu1001*",
"transcript": "ENST00000423662.6",
"protein_id": "ENSP00000398431.2",
"transcript_support_level": 1,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1061,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423662.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2887G>T",
"hgvs_p": "p.Glu963*",
"transcript": "ENST00000304538.10",
"protein_id": "ENSP00000302669.6",
"transcript_support_level": 1,
"aa_start": 963,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2887,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304538.10"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3298G>T",
"hgvs_p": "p.Glu1100*",
"transcript": "NM_020228.3",
"protein_id": "NP_064613.2",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020228.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3259G>T",
"hgvs_p": "p.Glu1087*",
"transcript": "NM_001367893.1",
"protein_id": "NP_001354822.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367893.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3247G>T",
"hgvs_p": "p.Glu1083*",
"transcript": "ENST00000887352.1",
"protein_id": "ENSP00000557411.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887352.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3232G>T",
"hgvs_p": "p.Glu1078*",
"transcript": "NM_001367892.1",
"protein_id": "NP_001354821.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1138,
"cds_start": 3232,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367892.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3226G>T",
"hgvs_p": "p.Glu1076*",
"transcript": "NM_001367891.1",
"protein_id": "NP_001354820.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1136,
"cds_start": 3226,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367891.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3169G>T",
"hgvs_p": "p.Glu1057*",
"transcript": "ENST00000528746.5",
"protein_id": "ENSP00000431262.1",
"transcript_support_level": 5,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528746.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3157G>T",
"hgvs_p": "p.Glu1053*",
"transcript": "ENST00000960421.1",
"protein_id": "ENSP00000630480.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960421.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3145G>T",
"hgvs_p": "p.Glu1049*",
"transcript": "ENST00000935517.1",
"protein_id": "ENSP00000605576.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1109,
"cds_start": 3145,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935517.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3040G>T",
"hgvs_p": "p.Glu1014*",
"transcript": "NM_001367899.1",
"protein_id": "NP_001354828.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1074,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367899.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3028G>T",
"hgvs_p": "p.Glu1010*",
"transcript": "NM_001367898.1",
"protein_id": "NP_001354827.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3028,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367898.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.3001G>T",
"hgvs_p": "p.Glu1001*",
"transcript": "NM_199438.2",
"protein_id": "NP_955470.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1061,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199438.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2938G>T",
"hgvs_p": "p.Glu980*",
"transcript": "NM_001367890.1",
"protein_id": "NP_001354819.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367890.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2899G>T",
"hgvs_p": "p.Glu967*",
"transcript": "NM_001367894.1",
"protein_id": "NP_001354823.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2899,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367894.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2887G>T",
"hgvs_p": "p.Glu963*",
"transcript": "NM_199439.2",
"protein_id": "NP_955471.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2887,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199439.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2449G>T",
"hgvs_p": "p.Glu817*",
"transcript": "NM_001367897.1",
"protein_id": "NP_001354826.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 877,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367897.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2437G>T",
"hgvs_p": "p.Glu813*",
"transcript": "NM_001367896.1",
"protein_id": "NP_001354825.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 873,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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],
"gene_symbol": "PRDM10",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.604,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "NM_020228.3",
"gene_symbol": "PRDM10",
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"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}