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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: 4-52071939-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=52071939&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 52071939,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145263.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "NM_145263.4",
"protein_id": "NP_660306.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 538,
"cds_start": 541,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295213.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145263.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000295213.9",
"protein_id": "ENSP00000295213.4",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 538,
"cds_start": 541,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295213.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Glu149Lys",
"transcript": "NM_001297608.2",
"protein_id": "NP_001284537.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 506,
"cds_start": 445,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297608.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Glu149Lys",
"transcript": "ENST00000419395.6",
"protein_id": "ENSP00000415309.2",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 506,
"cds_start": 445,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419395.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000851879.1",
"protein_id": "ENSP00000521938.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 485,
"cds_start": 541,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851879.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Glu108Lys",
"transcript": "ENST00000851876.1",
"protein_id": "ENSP00000521935.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 465,
"cds_start": 322,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851876.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Glu149Lys",
"transcript": "ENST00000851878.1",
"protein_id": "ENSP00000521937.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 453,
"cds_start": 445,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851878.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000851874.1",
"protein_id": "ENSP00000521933.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 433,
"cds_start": 226,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851874.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Glu44Lys",
"transcript": "NM_001346102.2",
"protein_id": "NP_001333031.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 401,
"cds_start": 130,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346102.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000957036.1",
"protein_id": "ENSP00000627095.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 385,
"cds_start": 541,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957036.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000957035.1",
"protein_id": "ENSP00000627094.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 380,
"cds_start": 226,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957035.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "XM_047449604.1",
"protein_id": "XP_047305560.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 433,
"cds_start": 226,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449604.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Glu61Lys",
"transcript": "XM_017007731.3",
"protein_id": "XP_016863220.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 418,
"cds_start": 181,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007731.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.151G>A",
"hgvs_p": "p.Glu51Lys",
"transcript": "XM_047449605.1",
"protein_id": "XP_047305561.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 408,
"cds_start": 151,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449605.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "XM_005265717.3",
"protein_id": "XP_005265774.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 357,
"cds_start": 541,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265717.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.-135G>A",
"hgvs_p": null,
"transcript": "NM_001346103.2",
"protein_id": "NP_001333032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346103.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.-135G>A",
"hgvs_p": null,
"transcript": "XM_011534372.2",
"protein_id": "XP_011532674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534372.2"
},
{
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.423-4840G>A",
"hgvs_p": null,
"transcript": "ENST00000851873.1",
"protein_id": "ENSP00000521932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": null,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851873.1"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.423-4840G>A",
"hgvs_p": null,
"transcript": "ENST00000928448.1",
"protein_id": "ENSP00000598507.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": null,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928448.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.204-4840G>A",
"hgvs_p": null,
"transcript": "ENST00000851877.1",
"protein_id": "ENSP00000521936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851877.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.309+11042G>A",
"hgvs_p": null,
"transcript": "ENST00000928447.1",
"protein_id": "ENSP00000598506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928447.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.87+20148G>A",
"hgvs_p": null,
"transcript": "ENST00000851875.1",
"protein_id": "ENSP00000521934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": null,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851875.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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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
}