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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: 19-46609125-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46609125&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "CALM3",
"hgnc_id": 1449,
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Glu141Gly",
"inheritance_mode": "AD",
"pathogenic_score": 15,
"score": 15,
"transcript": "NM_005184.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124904729",
"hgnc_id": null,
"hgvs_c": "n.36T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 10,
"score": 10,
"transcript": "XR_007067276.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000269292",
"hgnc_id": null,
"hgvs_c": "n.*152T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 10,
"score": 10,
"transcript": "ENST00000597609.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3_Moderate,PP5_Moderate",
"acmg_score": 15,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8271,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "19",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Long QT syndrome 1",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9989745616912842,
"computational_source_selected": "CardioboostArm",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 149,
"aa_ref": "E",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 527,
"cds_end": null,
"cds_length": 450,
"cds_start": 422,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_005184.4",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Glu141Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000291295.14",
"protein_coding": true,
"protein_id": "NP_005175.2",
"strand": true,
"transcript": "NM_005184.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 149,
"aa_ref": "E",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 527,
"cds_end": null,
"cds_length": 450,
"cds_start": 422,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000291295.14",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Glu141Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005184.4",
"protein_coding": true,
"protein_id": "ENSP00000291295.8",
"strand": true,
"transcript": "ENST00000291295.14",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 113,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 484,
"cds_end": null,
"cds_length": 342,
"cds_start": 314,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000599839.5",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Glu105Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471225.1",
"strand": true,
"transcript": "ENST00000599839.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 161,
"aa_ref": "E",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 556,
"cds_end": null,
"cds_length": 486,
"cds_start": 458,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000866718.1",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.458A>G",
"hgvs_p": "p.Glu153Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536777.1",
"strand": true,
"transcript": "ENST00000866718.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 160,
"aa_ref": "E",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 652,
"cds_end": null,
"cds_length": 483,
"cds_start": 455,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000866714.1",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Glu152Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536773.1",
"strand": true,
"transcript": "ENST00000866714.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 149,
"aa_ref": "E",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 558,
"cds_end": null,
"cds_length": 450,
"cds_start": 422,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001329922.1",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Glu141Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316851.1",
"strand": true,
"transcript": "NM_001329922.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 149,
"aa_ref": "E",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1203,
"cdna_start": 558,
"cds_end": null,
"cds_length": 450,
"cds_start": 422,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000596362.1",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Glu141Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472141.1",
"strand": true,
"transcript": "ENST00000596362.1",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 149,
"aa_ref": "E",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 504,
"cds_end": null,
"cds_length": 450,
"cds_start": 422,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866717.1",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.422A>G",
"hgvs_p": "p.Glu141Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536776.1",
"strand": true,
"transcript": "ENST00000866717.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 116,
"aa_ref": "E",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 505,
"cds_end": null,
"cds_length": 351,
"cds_start": 323,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000866716.1",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Glu108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536775.1",
"strand": true,
"transcript": "ENST00000866716.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 113,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 522,
"cds_end": null,
"cds_length": 342,
"cds_start": 314,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001329921.1",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Glu105Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316850.1",
"strand": true,
"transcript": "NM_001329921.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 113,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 484,
"cds_end": null,
"cds_length": 342,
"cds_start": 314,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001329923.1",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Glu105Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316852.1",
"strand": true,
"transcript": "NM_001329923.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 113,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 525,
"cds_end": null,
"cds_length": 342,
"cds_start": 314,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001329924.2",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Glu105Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316853.1",
"strand": true,
"transcript": "NM_001329924.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 113,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 496,
"cds_end": null,
"cds_length": 342,
"cds_start": 314,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001329925.2",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Glu105Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316854.1",
"strand": true,
"transcript": "NM_001329925.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 113,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 519,
"cds_end": null,
"cds_length": 342,
"cds_start": 314,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001329926.2",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Glu105Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316855.1",
"strand": true,
"transcript": "NM_001329926.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 113,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 702,
"cdna_start": 522,
"cds_end": null,
"cds_length": 342,
"cds_start": 314,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000391918.6",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Glu105Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375785.2",
"strand": true,
"transcript": "ENST00000391918.6",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 113,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 540,
"cdna_start": 483,
"cds_end": null,
"cds_length": 342,
"cds_start": 314,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000594523.5",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Glu105Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468877.1",
"strand": true,
"transcript": "ENST00000594523.5",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 113,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 561,
"cdna_start": 496,
"cds_end": null,
"cds_length": 342,
"cds_start": 314,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000598871.5",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Glu105Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470502.1",
"strand": true,
"transcript": "ENST00000598871.5",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 113,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 496,
"cds_end": null,
"cds_length": 342,
"cds_start": 314,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000866715.1",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Glu105Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536774.1",
"strand": true,
"transcript": "ENST00000866715.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 83,
"aa_ref": "E",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 577,
"cdna_start": 383,
"cds_end": null,
"cds_length": 252,
"cds_start": 224,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000597743.5",
"gene_hgnc_id": 1449,
"gene_symbol": "CALM3",
"hgvs_c": "c.224A>G",
"hgvs_p": "p.Glu75Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470308.1",
"strand": true,
"transcript": "ENST00000597743.5",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 76,
"aa_ref": "E",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 505,
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