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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: 1-48354622-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=48354622&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 48354622,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000371847.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "c.1194+1048G>A",
"hgvs_p": null,
"transcript": "NM_019073.4",
"protein_id": "NP_061946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5003,
"mane_select": "ENST00000371847.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "c.1194+1048G>A",
"hgvs_p": null,
"transcript": "ENST00000371847.8",
"protein_id": "ENSP00000360913.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5003,
"mane_select": "NM_019073.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "c.1146+1096G>A",
"hgvs_p": null,
"transcript": "ENST00000371843.7",
"protein_id": "ENSP00000360909.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "c.1152+1048G>A",
"hgvs_p": null,
"transcript": "NM_001286239.2",
"protein_id": "NP_001273168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "c.1152+1048G>A",
"hgvs_p": null,
"transcript": "ENST00000396199.7",
"protein_id": "ENSP00000379502.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "c.1146+1096G>A",
"hgvs_p": null,
"transcript": "NM_001286238.2",
"protein_id": "NP_001273167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "c.669+1096G>A",
"hgvs_p": null,
"transcript": "ENST00000371841.1",
"protein_id": "ENSP00000360907.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "n.823+1048G>A",
"hgvs_p": null,
"transcript": "ENST00000490850.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "n.*286+1048G>A",
"hgvs_p": null,
"transcript": "ENST00000603831.5",
"protein_id": "ENSP00000474844.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "c.1194+1048G>A",
"hgvs_p": null,
"transcript": "XM_006710699.4",
"protein_id": "XP_006710762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "c.1194+1048G>A",
"hgvs_p": null,
"transcript": "XM_047422900.1",
"protein_id": "XP_047278856.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SPATA6",
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"transcript": "XM_047422901.1",
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},
{
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"strand": false,
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],
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"intron_rank": 8,
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"gene_symbol": "SPATA6",
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"hgvs_c": "c.978+1048G>A",
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"transcript": "XM_017001510.2",
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},
{
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],
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"gene_symbol": "SPATA6",
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"hgvs_c": "c.1194+1048G>A",
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},
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],
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},
{
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],
"exon_rank": null,
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"gene_symbol": "SPATA6",
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"hgvs_c": "c.909+30687G>A",
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},
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],
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"gene_symbol": "SPATA6",
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"hgvs_c": "c.882+1048G>A",
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"transcript": "XM_011541607.3",
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},
{
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],
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"intron_rank": 9,
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"gene_symbol": "SPATA6",
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"hgvs_c": "c.870+1048G>A",
"hgvs_p": null,
"transcript": "XM_011541609.3",
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SPATA6",
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},
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],
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},
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],
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"gene_symbol": "SPATA6",
"gene_hgnc_id": 18309,
"hgvs_c": "c.810+1048G>A",
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"transcript": "XM_047422907.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
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"gene_symbol": "SPATA6",
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"hgvs_c": "c.909+30687G>A",
"hgvs_p": null,
"transcript": "XM_047422913.1",
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{
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{
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],
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"gnomad_genomes_af": 0.426501,
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"gnomad_genomes_ac": 64771,
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"gnomad_genomes_homalt": 14931,
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"computational_score_selected": -0.9599999785423279,
"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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"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000371847.8",
"gene_symbol": "SPATA6",
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"effects": [
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"inheritance_mode": "AR",
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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
}