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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: 4-51891817-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=51891817&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 51891817,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001287755.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Leu",
"transcript": "NM_001040402.3",
"protein_id": "NP_001035492.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 292,
"cds_start": 472,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334635.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040402.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Leu",
"transcript": "ENST00000334635.10",
"protein_id": "ENSP00000334625.5",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 292,
"cds_start": 472,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040402.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334635.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Leu",
"transcript": "ENST00000381441.7",
"protein_id": "ENSP00000370850.3",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 257,
"cds_start": 472,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381441.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Phe",
"transcript": "ENST00000510808.1",
"protein_id": "ENSP00000426048.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 102,
"cds_start": 11,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510808.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "NM_001287755.1",
"protein_id": "NP_001274684.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 336,
"cds_start": 604,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287755.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000451288.6",
"protein_id": "ENSP00000389900.2",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 336,
"cds_start": 604,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451288.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Leu155Leu",
"transcript": "ENST00000893398.1",
"protein_id": "ENSP00000563457.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 289,
"cds_start": 463,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893398.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Leu",
"transcript": "ENST00000960096.1",
"protein_id": "ENSP00000630155.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 263,
"cds_start": 472,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960096.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Leu",
"transcript": "NM_015115.4",
"protein_id": "NP_055930.2",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 257,
"cds_start": 472,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015115.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Leu121Leu",
"transcript": "ENST00000960097.1",
"protein_id": "ENSP00000630156.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 255,
"cds_start": 361,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960097.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Leu",
"transcript": "NM_001287757.2",
"protein_id": "NP_001274686.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 232,
"cds_start": 292,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287757.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Leu121Leu",
"transcript": "ENST00000927742.1",
"protein_id": "ENSP00000597801.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 220,
"cds_start": 361,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927742.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000505403.5",
"protein_id": "ENSP00000426982.1",
"transcript_support_level": 4,
"aa_start": 202,
"aa_end": null,
"aa_length": 211,
"cds_start": 604,
"cds_end": null,
"cds_length": 638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505403.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "XM_005265731.4",
"protein_id": "XP_005265788.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 301,
"cds_start": 604,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265731.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Leu160Leu",
"transcript": "XM_047449872.1",
"protein_id": "XP_047305828.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 478,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449872.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Leu160Leu",
"transcript": "XM_047449873.1",
"protein_id": "XP_047305829.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 478,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449873.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Leu160Leu",
"transcript": "XM_047449874.1",
"protein_id": "XP_047305830.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 478,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449874.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "XM_047449875.1",
"protein_id": "XP_047305831.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 274,
"cds_start": 604,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449875.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Leu160Leu",
"transcript": "XM_017007912.3",
"protein_id": "XP_016863401.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 259,
"cds_start": 478,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007912.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "XM_047449876.1",
"protein_id": "XP_047305832.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 256,
"cds_start": 604,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449876.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Leu",
"transcript": "XM_011534380.2",
"protein_id": "XP_011532682.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 232,
"cds_start": 292,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534380.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Leu",
"transcript": "XM_024453943.2",
"protein_id": "XP_024309711.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 232,
"cds_start": 292,
"cds_end": null,
"cds_length": 699,
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{
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{
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{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "DCUN1D4",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84586e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12722247838974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.2799,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.231,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001287755.1",
"gene_symbol": "DCUN1D4",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}