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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: 14-75633653-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75633653&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FLVCR2",
"hgnc_id": 20105,
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Ala326Val",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_017791.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "TTLL5",
"hgnc_id": 19963,
"hgvs_c": "n.29C>T",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "ENST00000556265.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_score": 5,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.7258,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "14",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Fowler syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8650763630867004,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 526,
"aa_ref": "A",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3629,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1581,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_017791.3",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Ala326Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000238667.9",
"protein_coding": true,
"protein_id": "NP_060261.2",
"strand": true,
"transcript": "NM_017791.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 526,
"aa_ref": "A",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3629,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1581,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000238667.9",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Ala326Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017791.3",
"protein_coding": true,
"protein_id": "ENSP00000238667.4",
"strand": true,
"transcript": "ENST00000238667.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 544,
"aa_ref": "A",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852195.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Ala344Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522253.1",
"strand": true,
"transcript": "ENST00000852195.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 516,
"aa_ref": "A",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1551,
"cds_start": 947,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852190.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ala316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522250.1",
"strand": true,
"transcript": "ENST00000852190.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 516,
"aa_ref": "A",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2544,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1551,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943497.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Ala326Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613556.1",
"strand": true,
"transcript": "ENST00000943497.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1470,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852184.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Ala326Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522243.1",
"strand": true,
"transcript": "ENST00000852184.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 479,
"aa_ref": "A",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1440,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852182.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Ala279Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522242.1",
"strand": true,
"transcript": "ENST00000852182.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 442,
"aa_ref": "A",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1329,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852188.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Ala279Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522247.1",
"strand": true,
"transcript": "ENST00000852188.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 382,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1149,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852186.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522245.1",
"strand": true,
"transcript": "ENST00000852186.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 345,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 867,
"cds_end": null,
"cds_length": 1038,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852192.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522252.1",
"strand": true,
"transcript": "ENST00000852192.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 393,
"cds_end": null,
"cds_length": 966,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001195283.2",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182212.1",
"strand": true,
"transcript": "NM_001195283.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": 471,
"cds_end": null,
"cds_length": 966,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000539311.5",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443439.1",
"strand": true,
"transcript": "ENST00000539311.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 241,
"aa_ref": "A",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 938,
"cdna_start": 173,
"cds_end": null,
"cds_length": 726,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000555027.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ala41Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452453.1",
"strand": true,
"transcript": "ENST00000555027.1",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 719,
"cdna_start": 188,
"cds_end": null,
"cds_length": 611,
"cds_start": 80,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000553341.5",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.80C>T",
"hgvs_p": "p.Ala27Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452584.1",
"strand": true,
"transcript": "ENST00000553341.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 669,
"cdna_start": 137,
"cds_end": null,
"cds_length": 609,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000554580.5",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Ala26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451781.1",
"strand": true,
"transcript": "ENST00000554580.5",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 133,
"aa_ref": "A",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": 327,
"cds_end": null,
"cds_length": 402,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000553587.5",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ala74Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451603.1",
"strand": true,
"transcript": "ENST00000553587.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 87,
"aa_ref": "A",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 532,
"cdna_start": 488,
"cds_end": null,
"cds_length": 265,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000555058.5",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Ala74Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451104.1",
"strand": true,
"transcript": "ENST00000555058.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943496.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.953-1306C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613555.1",
"strand": true,
"transcript": "ENST00000943496.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 93,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1020,
"cdna_start": null,
"cds_end": null,
"cds_length": 282,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556856.1",
"gene_hgnc_id": 20105,
"gene_symbol": "FLVCR2",
"hgvs_c": "c.196+8901C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452468.1",
"strand": true,
"transcript": "ENST00000556856.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 182,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000554132.1",
"gene_hgnc_id": 19963,
"gene_symbol": "TTLL5",
"hgvs_c": "n.29C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000554132.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 286,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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}