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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: 6-15522987-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=15522987&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 15522987,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032122.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.1044C>G",
"hgvs_p": "p.Asp348Glu",
"transcript": "NM_032122.5",
"protein_id": "NP_115498.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 351,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": "ENST00000344537.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032122.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.1044C>G",
"hgvs_p": "p.Asp348Glu",
"transcript": "ENST00000344537.10",
"protein_id": "ENSP00000341680.6",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 351,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": "NM_032122.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344537.10"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.939C>G",
"hgvs_p": "p.Asp313Glu",
"transcript": "ENST00000622898.4",
"protein_id": "ENSP00000481997.1",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 316,
"cds_start": 939,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622898.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.1125C>G",
"hgvs_p": "p.Asp375Glu",
"transcript": "ENST00000857317.1",
"protein_id": "ENSP00000527376.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 378,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857317.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Asp361Glu",
"transcript": "ENST00000857318.1",
"protein_id": "ENSP00000527377.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 364,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857318.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.993C>G",
"hgvs_p": "p.Asp331Glu",
"transcript": "NM_001271668.2",
"protein_id": "NP_001258597.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 334,
"cds_start": 993,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271668.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.993C>G",
"hgvs_p": "p.Asp331Glu",
"transcript": "ENST00000355917.7",
"protein_id": "ENSP00000348183.4",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 334,
"cds_start": 993,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355917.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.939C>G",
"hgvs_p": "p.Asp313Glu",
"transcript": "NM_001271669.2",
"protein_id": "NP_001258598.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 316,
"cds_start": 939,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271669.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.837C>G",
"hgvs_p": "p.Asp279Glu",
"transcript": "ENST00000931310.1",
"protein_id": "ENSP00000601369.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 282,
"cds_start": 837,
"cds_end": null,
"cds_length": 849,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931310.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.801C>G",
"hgvs_p": "p.Asp267Glu",
"transcript": "NM_001271667.2",
"protein_id": "NP_001258596.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 270,
"cds_start": 801,
"cds_end": null,
"cds_length": 813,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271667.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.717C>G",
"hgvs_p": "p.Asp239Glu",
"transcript": "ENST00000857319.1",
"protein_id": "ENSP00000527378.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 242,
"cds_start": 717,
"cds_end": null,
"cds_length": 729,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857319.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.576C>G",
"hgvs_p": "p.Asp192Glu",
"transcript": "ENST00000462989.6",
"protein_id": "ENSP00000427239.1",
"transcript_support_level": 3,
"aa_start": 192,
"aa_end": null,
"aa_length": 195,
"cds_start": 576,
"cds_end": null,
"cds_length": 588,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462989.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.1005C>G",
"hgvs_p": "p.Asp335Glu",
"transcript": "XM_047419394.1",
"protein_id": "XP_047275350.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 338,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419394.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.954C>G",
"hgvs_p": "p.Asp318Glu",
"transcript": "XM_047419395.1",
"protein_id": "XP_047275351.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 321,
"cds_start": 954,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 1253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419395.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.576C>G",
"hgvs_p": "p.Asp192Glu",
"transcript": "XM_011514937.3",
"protein_id": "XP_011513239.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 195,
"cds_start": 576,
"cds_end": null,
"cds_length": 588,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514937.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*954C>G",
"hgvs_p": null,
"transcript": "ENST00000510395.5",
"protein_id": "ENSP00000424685.1",
"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": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510395.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*1044C>G",
"hgvs_p": null,
"transcript": "ENST00000513680.5",
"protein_id": "ENSP00000424357.1",
"transcript_support_level": 5,
"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": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513680.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*368C>G",
"hgvs_p": null,
"transcript": "ENST00000515875.5",
"protein_id": "ENSP00000425495.1",
"transcript_support_level": 5,
"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": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515875.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*954C>G",
"hgvs_p": null,
"transcript": "ENST00000510395.5",
"protein_id": "ENSP00000424685.1",
"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": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510395.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*1044C>G",
"hgvs_p": null,
"transcript": "ENST00000513680.5",
"protein_id": "ENSP00000424357.1",
"transcript_support_level": 5,
"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": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513680.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*368C>G",
"hgvs_p": null,
"transcript": "ENST00000515875.5",
"protein_id": "ENSP00000425495.1",
"transcript_support_level": 5,
"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": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515875.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.*68C>G",
"hgvs_p": null,
"transcript": "ENST00000509674.1",
"protein_id": "ENSP00000421797.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509674.1"
}
],
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"dbsnp": "rs972961523",
"frequency_reference_population": 0.0000018586347,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": 0.00000657047,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04662683606147766,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.1026,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.909,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032122.5",
"gene_symbol": "DTNBP1",
"hgnc_id": 17328,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1044C>G",
"hgvs_p": "p.Asp348Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}