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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: 4-182915043-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=182915043&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 182915043,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001012732.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "NM_001921.3",
"protein_id": "NP_001912.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": "ENST00000438320.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001921.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000438320.7",
"protein_id": "ENSP00000398194.2",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": "NM_001921.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438320.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Val53Met",
"transcript": "ENST00000357067.7",
"protein_id": "ENSP00000349576.3",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 189,
"cds_start": 157,
"cds_end": null,
"cds_length": 570,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357067.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "n.108+418G>A",
"hgvs_p": null,
"transcript": "ENST00000507631.5",
"protein_id": "ENSP00000425287.1",
"transcript_support_level": 1,
"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": 879,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000507631.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Val53Met",
"transcript": "NM_001012732.2",
"protein_id": "NP_001012750.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 189,
"cds_start": 157,
"cds_end": null,
"cds_length": 570,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012732.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "NM_001351743.2",
"protein_id": "NP_001338672.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351743.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "NM_001351744.2",
"protein_id": "NP_001338673.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351744.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "NM_001351745.2",
"protein_id": "NP_001338674.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351745.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "NM_001351747.2",
"protein_id": "NP_001338676.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351747.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "NM_001351748.2",
"protein_id": "NP_001338677.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351748.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "NM_001351750.2",
"protein_id": "NP_001338679.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351750.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "NM_001351753.2",
"protein_id": "NP_001338682.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351753.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000510370.5",
"protein_id": "ENSP00000424017.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510370.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000908122.1",
"protein_id": "ENSP00000578181.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908122.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000908123.1",
"protein_id": "ENSP00000578182.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908123.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000908124.1",
"protein_id": "ENSP00000578183.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1935,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908124.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000908126.1",
"protein_id": "ENSP00000578185.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908126.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000908127.1",
"protein_id": "ENSP00000578186.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908127.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000908128.1",
"protein_id": "ENSP00000578187.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
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"cds_length": 537,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908128.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000908129.1",
"protein_id": "ENSP00000578188.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908129.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000908130.1",
"protein_id": "ENSP00000578189.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908130.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Val42Met",
"transcript": "ENST00000908131.1",
"protein_id": "ENSP00000578190.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 178,
"cds_start": 124,
"cds_end": null,
"cds_length": 537,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908131.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
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{
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],
"gene_symbol": "DCTD",
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"dbsnp": "rs202145611",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 312,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7895470857620239,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.435,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9102,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.718,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 1,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001012732.2",
"gene_symbol": "DCTD",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"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
}