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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: 2-17931454-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=17931454&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KCNS3",
"hgnc_id": 6302,
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_002252.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 45,
"alphamissense_prediction": null,
"alphamissense_score": 0.0948,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08391159772872925,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002252.5",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304101.9",
"protein_coding": true,
"protein_id": "NP_002243.3",
"strand": true,
"transcript": "NM_002252.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000304101.9",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002252.5",
"protein_coding": true,
"protein_id": "ENSP00000305824.4",
"strand": true,
"transcript": "ENST00000304101.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2397,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000403915.5",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385968.1",
"strand": true,
"transcript": "ENST00000403915.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001282428.2",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269357.1",
"strand": true,
"transcript": "NM_001282428.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 680,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000869571.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539630.1",
"strand": true,
"transcript": "ENST00000869571.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869572.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539631.1",
"strand": true,
"transcript": "ENST00000869572.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 857,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000869573.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539632.1",
"strand": true,
"transcript": "ENST00000869573.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869574.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539633.1",
"strand": true,
"transcript": "ENST00000869574.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000869575.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539634.1",
"strand": true,
"transcript": "ENST00000869575.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869576.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539635.1",
"strand": true,
"transcript": "ENST00000869576.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000869577.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539636.1",
"strand": true,
"transcript": "ENST00000869577.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 491,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000920631.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590690.1",
"strand": true,
"transcript": "ENST00000920631.1",
"transcript_support_level": null
},
{
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"aa_length": 491,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000920632.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590691.1",
"strand": true,
"transcript": "ENST00000920632.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2884,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000920633.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590692.1",
"strand": true,
"transcript": "ENST00000920633.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 491,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000920634.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590693.1",
"strand": true,
"transcript": "ENST00000920634.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000920635.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590694.1",
"strand": true,
"transcript": "ENST00000920635.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000954193.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624252.1",
"strand": true,
"transcript": "ENST00000954193.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_length": 2530,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954194.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624253.1",
"strand": true,
"transcript": "ENST00000954194.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954195.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624254.1",
"strand": true,
"transcript": "ENST00000954195.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954196.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624255.1",
"strand": true,
"transcript": "ENST00000954196.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3349,
"cdna_start": 1847,
"cds_end": null,
"cds_length": 1476,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954197.1",
"gene_hgnc_id": 6302,
"gene_symbol": "KCNS3",
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"intron_rank": null,
"intron_rank_end": null,
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}