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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: 6-15523145-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=15523145&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 15523145,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032122.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"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.886C>T",
"hgvs_p": "p.Pro296Ser",
"transcript": "NM_032122.5",
"protein_id": "NP_115498.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 351,
"cds_start": 886,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344537.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032122.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.886C>T",
"hgvs_p": "p.Pro296Ser",
"transcript": "ENST00000344537.10",
"protein_id": "ENSP00000341680.6",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 351,
"cds_start": 886,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032122.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344537.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.781C>T",
"hgvs_p": "p.Pro261Ser",
"transcript": "ENST00000622898.4",
"protein_id": "ENSP00000481997.1",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 316,
"cds_start": 781,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622898.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.967C>T",
"hgvs_p": "p.Pro323Ser",
"transcript": "ENST00000857317.1",
"protein_id": "ENSP00000527376.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 378,
"cds_start": 967,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857317.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.925C>T",
"hgvs_p": "p.Pro309Ser",
"transcript": "ENST00000857318.1",
"protein_id": "ENSP00000527377.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 364,
"cds_start": 925,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857318.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.835C>T",
"hgvs_p": "p.Pro279Ser",
"transcript": "NM_001271668.2",
"protein_id": "NP_001258597.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 334,
"cds_start": 835,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271668.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.835C>T",
"hgvs_p": "p.Pro279Ser",
"transcript": "ENST00000355917.7",
"protein_id": "ENSP00000348183.4",
"transcript_support_level": 5,
"aa_start": 279,
"aa_end": null,
"aa_length": 334,
"cds_start": 835,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355917.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.781C>T",
"hgvs_p": "p.Pro261Ser",
"transcript": "NM_001271669.2",
"protein_id": "NP_001258598.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 316,
"cds_start": 781,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271669.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.679C>T",
"hgvs_p": "p.Pro227Ser",
"transcript": "ENST00000931310.1",
"protein_id": "ENSP00000601369.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 282,
"cds_start": 679,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931310.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.643C>T",
"hgvs_p": "p.Pro215Ser",
"transcript": "NM_001271667.2",
"protein_id": "NP_001258596.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 270,
"cds_start": 643,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271667.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.559C>T",
"hgvs_p": "p.Pro187Ser",
"transcript": "ENST00000857319.1",
"protein_id": "ENSP00000527378.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 242,
"cds_start": 559,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857319.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "ENST00000462989.6",
"protein_id": "ENSP00000427239.1",
"transcript_support_level": 3,
"aa_start": 140,
"aa_end": null,
"aa_length": 195,
"cds_start": 418,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462989.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.337C>T",
"hgvs_p": "p.Pro113Ser",
"transcript": "ENST00000509674.1",
"protein_id": "ENSP00000421797.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 141,
"cds_start": 337,
"cds_end": null,
"cds_length": 427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509674.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.847C>T",
"hgvs_p": "p.Pro283Ser",
"transcript": "XM_047419394.1",
"protein_id": "XP_047275350.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 338,
"cds_start": 847,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419394.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.796C>T",
"hgvs_p": "p.Pro266Ser",
"transcript": "XM_047419395.1",
"protein_id": "XP_047275351.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 321,
"cds_start": 796,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419395.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "XM_011514937.3",
"protein_id": "XP_011513239.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 195,
"cds_start": 418,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.*796C>T",
"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": null,
"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.*886C>T",
"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": null,
"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.*210C>T",
"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": null,
"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.*796C>T",
"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": null,
"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.*886C>T",
"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": null,
"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.*210C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515875.5"
}
],
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"dbsnp": "rs74907982",
"frequency_reference_population": 0.0023893774,
"hom_count_reference_population": 79,
"allele_count_reference_population": 3857,
"gnomad_exomes_af": 0.00136125,
"gnomad_genomes_af": 0.0122558,
"gnomad_exomes_ac": 1990,
"gnomad_genomes_ac": 1867,
"gnomad_exomes_homalt": 42,
"gnomad_genomes_homalt": 37,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0035456418991088867,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.0658,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.82,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032122.5",
"gene_symbol": "DTNBP1",
"hgnc_id": 17328,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Pro296Ser"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}