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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: X-135287236-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=135287236&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 135287236,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_007131.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "NM_007131.5",
"protein_id": "NP_009062.2",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370766.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007131.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "ENST00000370766.8",
"protein_id": "ENSP00000359802.3",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007131.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370766.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "n.1206G>A",
"hgvs_p": null,
"transcript": "ENST00000469456.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000469456.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "ENST00000865785.1",
"protein_id": "ENSP00000535844.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865785.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "ENST00000865786.1",
"protein_id": "ENSP00000535845.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865786.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "ENST00000865787.1",
"protein_id": "ENSP00000535846.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865787.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "ENST00000865788.1",
"protein_id": "ENSP00000535847.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865788.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "ENST00000865789.1",
"protein_id": "ENSP00000535848.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865789.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "ENST00000865790.1",
"protein_id": "ENSP00000535849.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865790.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "ENST00000865791.1",
"protein_id": "ENSP00000535850.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865791.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "ENST00000942298.1",
"protein_id": "ENSP00000612357.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942298.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Thr383Thr",
"transcript": "NM_001185063.2",
"protein_id": "NP_001171992.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 415,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185063.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Thr383Thr",
"transcript": "ENST00000370764.1",
"protein_id": "ENSP00000359800.1",
"transcript_support_level": 2,
"aa_start": 383,
"aa_end": null,
"aa_length": 415,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370764.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Thr383Thr",
"transcript": "ENST00000942296.1",
"protein_id": "ENSP00000612355.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 415,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942296.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Thr383Thr",
"transcript": "ENST00000942297.1",
"protein_id": "ENSP00000612356.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 415,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942297.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr",
"transcript": "XM_047442485.1",
"protein_id": "XP_047298441.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 510,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442485.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Thr332Thr",
"transcript": "XM_047442487.1",
"protein_id": "XP_047298443.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 364,
"cds_start": 996,
"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": "XM_047442487.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Thr328Thr",
"transcript": "XM_047442486.1",
"protein_id": "XP_047298442.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 360,
"cds_start": 984,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442486.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Thr307Thr",
"transcript": "XM_011531397.4",
"protein_id": "XP_011529699.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 339,
"cds_start": 921,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531397.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.813G>A",
"hgvs_p": "p.Thr271Thr",
"transcript": "XM_005262471.4",
"protein_id": "XP_005262528.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 303,
"cds_start": 813,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262471.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ETDC",
"gene_hgnc_id": 53450,
"hgvs_c": "c.-1245-6514C>T",
"hgvs_p": null,
"transcript": "ENST00000850982.1",
"protein_id": "ENSP00000521065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850982.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "n.828-31459G>A",
"hgvs_p": null,
"transcript": "ENST00000494295.2",
"protein_id": null,
"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,
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{
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],
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"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.63,
"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": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 13,
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"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_007131.5",
"gene_symbol": "ZNF75D",
"hgnc_id": 13145,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1434G>A",
"hgvs_p": "p.Thr478Thr"
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{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000850982.1",
"gene_symbol": "ETDC",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-1245-6514C>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}