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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: 5-134163895-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134163895&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SKP1",
"hgnc_id": 10899,
"hgvs_c": "c.172-2765T>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_170679.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000272772",
"hgnc_id": null,
"hgvs_c": "c.274-2765T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000519718.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.94,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 163,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9386,
"cdna_start": null,
"cds_end": null,
"cds_length": 492,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_170679.3",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000353411.11",
"protein_coding": true,
"protein_id": "NP_733779.1",
"strand": false,
"transcript": "NM_170679.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 163,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9386,
"cdna_start": null,
"cds_end": null,
"cds_length": 492,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000353411.11",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_170679.3",
"protein_coding": true,
"protein_id": "ENSP00000231487.9",
"strand": false,
"transcript": "ENST00000353411.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 197,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": null,
"cds_end": null,
"cds_length": 594,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519718.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000272772",
"hgvs_c": "c.274-2765T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430774.2",
"strand": false,
"transcript": "ENST00000519718.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 160,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1683,
"cdna_start": null,
"cds_end": null,
"cds_length": 483,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000522552.5",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429472.1",
"strand": false,
"transcript": "ENST00000522552.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 186,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": null,
"cds_end": null,
"cds_length": 561,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880998.1",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.241-2765T>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551057.1",
"strand": false,
"transcript": "ENST00000880998.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 173,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 980,
"cdna_start": null,
"cds_end": null,
"cds_length": 522,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968701.1",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.202-2765T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638760.1",
"strand": false,
"transcript": "ENST00000968701.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 163,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 876,
"cdna_start": null,
"cds_end": null,
"cds_length": 492,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517625.5",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429961.1",
"strand": false,
"transcript": "ENST00000517625.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 163,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 899,
"cdna_start": null,
"cds_end": null,
"cds_length": 492,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000521216.5",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431067.1",
"strand": false,
"transcript": "ENST00000521216.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 163,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 802,
"cdna_start": null,
"cds_end": null,
"cds_length": 492,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000522855.5",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429686.1",
"strand": false,
"transcript": "ENST00000522855.5",
"transcript_support_level": 2
},
{
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"aa_length": 163,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5220,
"cdna_start": null,
"cds_end": null,
"cds_length": 492,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
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"feature": "ENST00000880996.1",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551055.1",
"strand": false,
"transcript": "ENST00000880996.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000880997.1",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551056.1",
"strand": false,
"transcript": "ENST00000880997.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000881000.1",
"gene_hgnc_id": 10899,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551059.1",
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},
{
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],
"exon_count": 6,
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"feature": "ENST00000934651.1",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604710.1",
"strand": false,
"transcript": "ENST00000934651.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000934653.1",
"gene_hgnc_id": 10899,
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"hgvs_c": "c.172-2765T>A",
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"protein_coding": true,
"protein_id": "ENSP00000604712.1",
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"transcript": "ENST00000934653.1",
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},
{
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"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000934654.1",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604713.1",
"strand": false,
"transcript": "ENST00000934654.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000968700.1",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638759.1",
"strand": false,
"transcript": "ENST00000968700.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"consequences": [
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],
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"feature": "ENST00000934648.1",
"gene_hgnc_id": 10899,
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"hgvs_c": "c.172-2765T>A",
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"protein_coding": true,
"protein_id": "ENSP00000604707.1",
"strand": false,
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},
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],
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"feature": "NM_006930.4",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_008861.2",
"strand": false,
"transcript": "NM_006930.4",
"transcript_support_level": null
},
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"consequences": [
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],
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"feature": "ENST00000934649.1",
"gene_hgnc_id": 10899,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604708.1",
"strand": false,
"transcript": "ENST00000934649.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 476,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000328392.10",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.172-2765T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000331708.6",
"strand": false,
"transcript": "ENST00000328392.10",
"transcript_support_level": 5
},
{
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"aa_ref": 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": 471,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934652.1",
"gene_hgnc_id": 10899,
"gene_symbol": "SKP1",
"hgvs_c": "c.151-2765T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
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