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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: 14-74095960-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74095960&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74095960,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001372005.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "NM_001024674.3",
"protein_id": "NP_001019845.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 112,
"cds_start": 107,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000555028.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024674.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000555028.7",
"protein_id": "ENSP00000451812.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 112,
"cds_start": 107,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001024674.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555028.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000962093.1",
"protein_id": "ENSP00000632152.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 150,
"cds_start": 107,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962093.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "NM_001372005.1",
"protein_id": "NP_001358934.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 147,
"cds_start": 107,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372005.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"transcript": "ENST00000899706.1",
"protein_id": "ENSP00000569765.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 118,
"cds_start": 125,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899706.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ala40Val",
"transcript": "ENST00000899709.1",
"protein_id": "ENSP00000569768.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 116,
"cds_start": 119,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899709.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Ala34Val",
"transcript": "NM_001372006.1",
"protein_id": "NP_001358935.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 110,
"cds_start": 101,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372006.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Ala34Val",
"transcript": "ENST00000899705.1",
"protein_id": "ENSP00000569764.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 110,
"cds_start": 101,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899705.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ala42Val",
"transcript": "ENST00000554938.2",
"protein_id": "ENSP00000452513.2",
"transcript_support_level": 4,
"aa_start": 42,
"aa_end": null,
"aa_length": 90,
"cds_start": 125,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554938.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Ala11Val",
"transcript": "ENST00000962092.1",
"protein_id": "ENSP00000632151.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 87,
"cds_start": 32,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962092.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val",
"transcript": "ENST00000899707.1",
"protein_id": "ENSP00000569766.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 84,
"cds_start": 107,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899707.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Ala34Val",
"transcript": "ENST00000962091.1",
"protein_id": "ENSP00000632150.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 82,
"cds_start": 101,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962091.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Ala38Val",
"transcript": "XM_047431916.1",
"protein_id": "XP_047287872.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 149,
"cds_start": 113,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431916.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ala40Val",
"transcript": "XM_011537321.4",
"protein_id": "XP_011535623.2",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 112,
"cds_start": 119,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537321.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Ala38Val",
"transcript": "XM_047431917.1",
"protein_id": "XP_047287873.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 110,
"cds_start": 113,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431917.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ala40Val",
"transcript": "XM_011537322.3",
"protein_id": "XP_011535624.2",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 108,
"cds_start": 119,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537322.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Ala38Val",
"transcript": "XM_047431918.1",
"protein_id": "XP_047287874.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 106,
"cds_start": 113,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431918.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ala40Val",
"transcript": "XM_017021764.2",
"protein_id": "XP_016877253.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 98,
"cds_start": 119,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021764.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "c.19+10967C>T",
"hgvs_p": null,
"transcript": "ENST00000899708.1",
"protein_id": "ENSP00000569767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 24,
"cds_start": null,
"cds_end": null,
"cds_length": 75,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "n.730C>T",
"hgvs_p": null,
"transcript": "ENST00000553404.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000553404.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "n.119C>T",
"hgvs_p": null,
"transcript": "ENST00000554076.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000554076.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"hgvs_c": "n.179C>T",
"hgvs_p": null,
"transcript": "ENST00000554289.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554289.1"
}
],
"gene_symbol": "LIN52",
"gene_hgnc_id": 19856,
"dbsnp": "rs532558275",
"frequency_reference_population": 0.000014918396,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000144182,
"gnomad_genomes_af": 0.0000197037,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.030426084995269775,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.3334,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.382,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001372005.1",
"gene_symbol": "LIN52",
"hgnc_id": 19856,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ala36Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}