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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: 4-51863697-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=51863697&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 51863697,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001287755.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "NM_001040402.3",
"protein_id": "NP_001035492.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 292,
"cds_start": 124,
"cds_end": null,
"cds_length": 879,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": "ENST00000334635.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040402.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000334635.10",
"protein_id": "ENSP00000334625.5",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 292,
"cds_start": 124,
"cds_end": null,
"cds_length": 879,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": "NM_001040402.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334635.10"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000381441.7",
"protein_id": "ENSP00000370850.3",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 257,
"cds_start": 124,
"cds_end": null,
"cds_length": 774,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381441.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Asp86His",
"transcript": "NM_001287755.1",
"protein_id": "NP_001274684.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 336,
"cds_start": 256,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287755.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Asp86His",
"transcript": "ENST00000451288.6",
"protein_id": "ENSP00000389900.2",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 336,
"cds_start": 256,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 4269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451288.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000893398.1",
"protein_id": "ENSP00000563457.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 289,
"cds_start": 124,
"cds_end": null,
"cds_length": 870,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893398.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000927743.1",
"protein_id": "ENSP00000597802.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 271,
"cds_start": 124,
"cds_end": null,
"cds_length": 816,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 4141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927743.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000960096.1",
"protein_id": "ENSP00000630155.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 263,
"cds_start": 124,
"cds_end": null,
"cds_length": 792,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960096.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "NM_015115.4",
"protein_id": "NP_055930.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 257,
"cds_start": 124,
"cds_end": null,
"cds_length": 774,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015115.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Asp86His",
"transcript": "ENST00000505403.5",
"protein_id": "ENSP00000426982.1",
"transcript_support_level": 4,
"aa_start": 86,
"aa_end": null,
"aa_length": 211,
"cds_start": 256,
"cds_end": null,
"cds_length": 638,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505403.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "ENST00000893399.1",
"protein_id": "ENSP00000563458.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 190,
"cds_start": 124,
"cds_end": null,
"cds_length": 573,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893399.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Asp86His",
"transcript": "XM_005265731.4",
"protein_id": "XP_005265788.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 301,
"cds_start": 256,
"cds_end": null,
"cds_length": 906,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265731.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Asp44His",
"transcript": "XM_047449872.1",
"protein_id": "XP_047305828.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 294,
"cds_start": 130,
"cds_end": null,
"cds_length": 885,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 4506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449872.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Asp44His",
"transcript": "XM_047449873.1",
"protein_id": "XP_047305829.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 294,
"cds_start": 130,
"cds_end": null,
"cds_length": 885,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449873.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Asp44His",
"transcript": "XM_047449874.1",
"protein_id": "XP_047305830.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 294,
"cds_start": 130,
"cds_end": null,
"cds_length": 885,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449874.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Asp86His",
"transcript": "XM_047449875.1",
"protein_id": "XP_047305831.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 274,
"cds_start": 256,
"cds_end": null,
"cds_length": 825,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449875.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Asp44His",
"transcript": "XM_017007912.3",
"protein_id": "XP_016863401.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 259,
"cds_start": 130,
"cds_end": null,
"cds_length": 780,
"cdna_start": 12339,
"cdna_end": null,
"cdna_length": 16242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007912.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Asp86His",
"transcript": "XM_047449876.1",
"protein_id": "XP_047305832.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 256,
"cds_start": 256,
"cds_end": null,
"cds_length": 771,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449876.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "XM_047449878.1",
"protein_id": "XP_047305834.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 230,
"cds_start": 124,
"cds_end": null,
"cds_length": 693,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449878.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Asp44His",
"transcript": "XM_047449879.1",
"protein_id": "XP_047305835.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 214,
"cds_start": 130,
"cds_end": null,
"cds_length": 645,
"cdna_start": 12341,
"cdna_end": null,
"cdna_length": 12959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449879.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Asp42His",
"transcript": "XM_047449880.1",
"protein_id": "XP_047305836.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 212,
"cds_start": 124,
"cds_end": null,
"cds_length": 639,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.-57G>C",
"hgvs_p": null,
"transcript": "NM_001287757.2",
"protein_id": "NP_001274686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": null,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
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"dbsnp": "rs758053478",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25454607605934143,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.26,
"revel_prediction": "Benign",
"alphamissense_score": 0.1181,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.398,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001287755.1",
"gene_symbol": "DCUN1D4",
"hgnc_id": 28998,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.256G>C",
"hgvs_p": "p.Asp86His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}