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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: 9-4662564-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=4662564&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PLPP6",
"hgnc_id": 23682,
"hgvs_c": "c.189C>T",
"hgvs_p": "p.Ser63Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_203453.5",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SPATA6L",
"hgnc_id": 25472,
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001353484.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 295,
"aa_ref": "S",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 271,
"cds_end": null,
"cds_length": 888,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_203453.5",
"gene_hgnc_id": 23682,
"gene_symbol": "PLPP6",
"hgvs_c": "c.189C>T",
"hgvs_p": "p.Ser63Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381883.5",
"protein_coding": true,
"protein_id": "NP_982278.3",
"strand": true,
"transcript": "NM_203453.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 295,
"aa_ref": "S",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 271,
"cds_end": null,
"cds_length": 888,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000381883.5",
"gene_hgnc_id": 23682,
"gene_symbol": "PLPP6",
"hgvs_c": "c.189C>T",
"hgvs_p": "p.Ser63Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203453.5",
"protein_coding": true,
"protein_id": "ENSP00000371307.2",
"strand": true,
"transcript": "ENST00000381883.5",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 392,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3904,
"cdna_start": null,
"cds_end": null,
"cds_length": 1179,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353486.2",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682582.1",
"protein_coding": true,
"protein_id": "NP_001340415.1",
"strand": false,
"transcript": "NM_001353486.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 392,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3904,
"cdna_start": null,
"cds_end": null,
"cds_length": 1179,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682582.1",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001353486.2",
"protein_coding": true,
"protein_id": "ENSP00000506787.1",
"strand": false,
"transcript": "ENST00000682582.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000451763.6",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "n.189-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000451763.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353484.2",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340413.1",
"strand": false,
"transcript": "NM_001353484.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3958,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353485.2",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340414.1",
"strand": false,
"transcript": "NM_001353485.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001416130.1",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403059.1",
"strand": false,
"transcript": "NM_001416130.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000707146.1",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516765.1",
"strand": false,
"transcript": "ENST00000707146.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000707147.1",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516766.1",
"strand": false,
"transcript": "ENST00000707147.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2898,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888411.1",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558470.1",
"strand": false,
"transcript": "ENST00000888411.1",
"transcript_support_level": null
},
{
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"aa_length": 392,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": null,
"cds_end": null,
"cds_length": 1179,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958227.1",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628286.1",
"strand": false,
"transcript": "ENST00000958227.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1005,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001039395.4",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001034484.3",
"strand": false,
"transcript": "NM_001039395.4",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 334,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": null,
"cds_end": null,
"cds_length": 1005,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475086.5",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000417063.1",
"strand": false,
"transcript": "ENST00000475086.5",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1295,
"cdna_start": null,
"cds_end": null,
"cds_length": 876,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381890.9",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.40-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371314.5",
"strand": false,
"transcript": "ENST00000381890.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 269,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4180,
"cdna_start": null,
"cds_end": null,
"cds_length": 810,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353491.2",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "c.-606-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340420.1",
"strand": false,
"transcript": "NM_001353491.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 895,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000223517.9",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "n.213-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000223517.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000406861.6",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "n.40-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000384342.2",
"strand": false,
"transcript": "ENST00000406861.6",
"transcript_support_level": 2
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000461761.5",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "n.40-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418458.1",
"strand": false,
"transcript": "ENST00000461761.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000471669.1",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
"hgvs_c": "n.97-528G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000471669.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000485616.5",
"gene_hgnc_id": 25472,
"gene_symbol": "SPATA6L",
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