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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: 14-74101173-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74101173&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LIN52",
"hgnc_id": 19856,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001372005.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105370563",
"hgnc_id": null,
"hgvs_c": "n.2339-966G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_944024.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 15,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2406,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "14",
"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": 0.19740381836891174,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 112,
"aa_ref": "T",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2874,
"cdna_start": 237,
"cds_end": null,
"cds_length": 339,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001024674.3",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000555028.7",
"protein_coding": true,
"protein_id": "NP_001019845.2",
"strand": true,
"transcript": "NM_001024674.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 112,
"aa_ref": "T",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2874,
"cdna_start": 237,
"cds_end": null,
"cds_length": 339,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000555028.7",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001024674.3",
"protein_coding": true,
"protein_id": "ENSP00000451812.2",
"strand": true,
"transcript": "ENST00000555028.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 150,
"aa_ref": "T",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 233,
"cds_end": null,
"cds_length": 453,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962093.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632152.1",
"strand": true,
"transcript": "ENST00000962093.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 147,
"aa_ref": "T",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4593,
"cdna_start": 237,
"cds_end": null,
"cds_length": 444,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001372005.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358934.1",
"strand": true,
"transcript": "NM_001372005.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 118,
"aa_ref": "T",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 255,
"cds_end": null,
"cds_length": 357,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000899706.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Thr79Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569765.1",
"strand": true,
"transcript": "ENST00000899706.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 116,
"aa_ref": "T",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 993,
"cdna_start": 245,
"cds_end": null,
"cds_length": 351,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000899709.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569768.1",
"strand": true,
"transcript": "ENST00000899709.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 110,
"aa_ref": "T",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": 231,
"cds_end": null,
"cds_length": 333,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001372006.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.212C>T",
"hgvs_p": "p.Thr71Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358935.1",
"strand": true,
"transcript": "NM_001372006.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 110,
"aa_ref": "T",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 231,
"cds_end": null,
"cds_length": 333,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000899705.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.212C>T",
"hgvs_p": "p.Thr71Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569764.1",
"strand": true,
"transcript": "ENST00000899705.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 87,
"aa_ref": "T",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 162,
"cds_end": null,
"cds_length": 264,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962092.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632151.1",
"strand": true,
"transcript": "ENST00000962092.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 149,
"aa_ref": "T",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4587,
"cdna_start": 231,
"cds_end": null,
"cds_length": 450,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047431916.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Thr75Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287872.1",
"strand": true,
"transcript": "XM_047431916.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 112,
"aa_ref": "T",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 237,
"cds_end": null,
"cds_length": 339,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011537321.4",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535623.2",
"strand": true,
"transcript": "XM_011537321.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 110,
"aa_ref": "T",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 231,
"cds_end": null,
"cds_length": 333,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047431917.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Thr75Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287873.1",
"strand": true,
"transcript": "XM_047431917.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 108,
"aa_ref": "T",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 649,
"cdna_start": 237,
"cds_end": null,
"cds_length": 327,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011537322.3",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535624.2",
"strand": true,
"transcript": "XM_011537322.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 106,
"aa_ref": "T",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 643,
"cdna_start": 231,
"cds_end": null,
"cds_length": 321,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047431918.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Thr75Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287874.1",
"strand": true,
"transcript": "XM_047431918.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 98,
"aa_ref": "T",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 862,
"cdna_start": 237,
"cds_end": null,
"cds_length": 297,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017021764.2",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Thr77Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877253.1",
"strand": true,
"transcript": "XM_017021764.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 90,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 566,
"cdna_start": null,
"cds_end": null,
"cds_length": 273,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554938.2",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.217+3313C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452513.2",
"strand": true,
"transcript": "ENST00000554938.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 84,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": null,
"cds_end": null,
"cds_length": 255,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899707.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.199+3313C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569766.1",
"strand": true,
"transcript": "ENST00000899707.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 82,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": null,
"cds_end": null,
"cds_length": 249,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962091.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.193+3313C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632150.1",
"strand": true,
"transcript": "ENST00000962091.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 24,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": null,
"cds_end": null,
"cds_length": 75,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899708.1",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "c.19+16180C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569767.1",
"strand": true,
"transcript": "ENST00000899708.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 585,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000554076.5",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
"hgvs_c": "n.230C>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": "ENST00000554076.5",
"transcript_support_level": 3
},
{
"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": 2339,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553404.5",
"gene_hgnc_id": 19856,
"gene_symbol": "LIN52",
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{
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],
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]
}