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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: 17-50110086-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50110086&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50110086,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002611.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405Cys",
"transcript": "NM_002611.5",
"protein_id": "NP_002602.2",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 407,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000503176.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002611.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405Cys",
"transcript": "ENST00000503176.6",
"protein_id": "ENSP00000420927.1",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 407,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002611.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503176.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "c.*2807G>A",
"hgvs_p": null,
"transcript": "NM_001257359.2",
"protein_id": "NP_001244288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330175.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257359.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "c.*2807G>A",
"hgvs_p": null,
"transcript": "ENST00000330175.9",
"protein_id": "ENSP00000329144.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001257359.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330175.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440Cys",
"transcript": "ENST00000892669.1",
"protein_id": "ENSP00000562728.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 442,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892669.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420Cys",
"transcript": "ENST00000892667.1",
"protein_id": "ENSP00000562726.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 422,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892667.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Cys",
"transcript": "ENST00000892665.1",
"protein_id": "ENSP00000562724.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 406,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892665.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390Cys",
"transcript": "ENST00000969548.1",
"protein_id": "ENSP00000639607.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 392,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969548.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Arg387Cys",
"transcript": "ENST00000892668.1",
"protein_id": "ENSP00000562727.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 389,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892668.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1153C>T",
"hgvs_p": "p.Arg385Cys",
"transcript": "ENST00000892671.1",
"protein_id": "ENSP00000562730.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 387,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892671.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Cys",
"transcript": "ENST00000892666.1",
"protein_id": "ENSP00000562725.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 385,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892666.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "ENST00000969549.1",
"protein_id": "ENSP00000639608.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 383,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969549.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Arg372Cys",
"transcript": "ENST00000969550.1",
"protein_id": "ENSP00000639609.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 374,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969550.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367Cys",
"transcript": "ENST00000930435.1",
"protein_id": "ENSP00000600494.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 369,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930435.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Cys",
"transcript": "NM_001199898.2",
"protein_id": "NP_001186827.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 343,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199898.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Cys",
"transcript": "NM_001199899.2",
"protein_id": "NP_001186828.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 343,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199899.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Cys",
"transcript": "ENST00000007708.7",
"protein_id": "ENSP00000007708.3",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 343,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000007708.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Cys",
"transcript": "ENST00000614357.4",
"protein_id": "ENSP00000481915.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 343,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614357.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"transcript": "ENST00000892670.1",
"protein_id": "ENSP00000562729.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 300,
"cds_start": 892,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "c.*2807G>A",
"hgvs_p": null,
"transcript": "NM_174920.4",
"protein_id": "NP_777580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174920.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD14",
"gene_hgnc_id": 27312,
"hgvs_c": "c.*2807G>A",
"hgvs_p": null,
"transcript": "XM_017024322.3",
"protein_id": "XP_016879811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": null,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024322.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "n.683C>T",
"hgvs_p": null,
"transcript": "ENST00000512204.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000512204.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"hgvs_c": "n.*102C>T",
"hgvs_p": null,
"transcript": "ENST00000506647.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000506647.1"
}
],
"gene_symbol": "PDK2",
"gene_hgnc_id": 8810,
"dbsnp": "rs750294433",
"frequency_reference_population": 0.000013077431,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000123831,
"gnomad_genomes_af": 0.0000197075,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3509884774684906,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.294,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2453,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.21,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002611.5",
"gene_symbol": "PDK2",
"hgnc_id": 8810,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Arg405Cys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_174920.4",
"gene_symbol": "SAMD14",
"hgnc_id": 27312,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*2807G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}