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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: 12-56314861-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56314861&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CNPY2",
"hgnc_id": 13529,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_014255.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000144785",
"hgnc_id": null,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000549318.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "CNPY2-AS1",
"hgnc_id": 55480,
"hgvs_c": "n.575G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000549565.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.3944,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4333604872226715,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 182,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": 387,
"cds_end": null,
"cds_length": 549,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_014255.7",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000273308.9",
"protein_coding": true,
"protein_id": "NP_055070.1",
"strand": false,
"transcript": "NM_014255.7",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 182,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": 387,
"cds_end": null,
"cds_length": 549,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000273308.9",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014255.7",
"protein_coding": true,
"protein_id": "ENSP00000273308.4",
"strand": false,
"transcript": "ENST00000273308.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 262,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 937,
"cdna_start": 342,
"cds_end": null,
"cds_length": 789,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000549318.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000144785",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446743.1",
"strand": false,
"transcript": "ENST00000549318.5",
"transcript_support_level": 5
},
{
"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": 670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000546388.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "n.459C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000546388.1",
"transcript_support_level": 1
},
{
"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": 817,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000548013.5",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "n.446C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000548013.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 182,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": 630,
"cds_end": null,
"cds_length": 549,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929942.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600001.1",
"strand": false,
"transcript": "ENST00000929942.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 182,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 688,
"cds_end": null,
"cds_length": 549,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000971705.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641764.1",
"strand": false,
"transcript": "ENST00000971705.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 180,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 740,
"cds_end": null,
"cds_length": 543,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929941.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600000.1",
"strand": false,
"transcript": "ENST00000929941.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 180,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 687,
"cds_end": null,
"cds_length": 543,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929944.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600003.1",
"strand": false,
"transcript": "ENST00000929944.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 180,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 817,
"cdna_start": 344,
"cds_end": null,
"cds_length": 543,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929947.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600006.1",
"strand": false,
"transcript": "ENST00000929947.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 180,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 820,
"cdna_start": 354,
"cds_end": null,
"cds_length": 543,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929948.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600007.1",
"strand": false,
"transcript": "ENST00000929948.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 178,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1061,
"cdna_start": 593,
"cds_end": null,
"cds_length": 537,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929946.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600005.1",
"strand": false,
"transcript": "ENST00000929946.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 674,
"cdna_start": 363,
"cds_end": null,
"cds_length": 505,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000551475.5",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448809.1",
"strand": false,
"transcript": "ENST00000551475.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 147,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 641,
"cdna_start": 267,
"cds_end": null,
"cds_length": 444,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929943.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600002.1",
"strand": false,
"transcript": "ENST00000929943.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 114,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 828,
"cdna_start": 553,
"cds_end": null,
"cds_length": 345,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929945.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600004.1",
"strand": false,
"transcript": "ENST00000929945.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 114,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": 493,
"cds_end": null,
"cds_length": 345,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000971706.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641765.1",
"strand": false,
"transcript": "ENST00000971706.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 104,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 566,
"cdna_start": 443,
"cds_end": null,
"cds_length": 317,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000547423.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000144785",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446506.1",
"strand": false,
"transcript": "ENST00000547423.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 101,
"aa_ref": "S",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 484,
"cdna_start": 216,
"cds_end": null,
"cds_length": 306,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000551286.1",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446784.1",
"strand": false,
"transcript": "ENST00000551286.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 84,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 745,
"cds_end": null,
"cds_length": 255,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001190991.3",
"gene_hgnc_id": 13529,
"gene_symbol": "CNPY2",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177920.1",
"strand": false,
"transcript": "NM_001190991.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 81,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 512,
"cdna_start": 458,
"cds_end": null,
"cds_length": 248,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000548360.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000144785",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Ser65Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447042.1",
"strand": false,
"transcript": "ENST00000548360.1",
"transcript_support_level": 4
},
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