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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: X-65489286-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=65489286&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 65489286,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001010888.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "NM_001010888.4",
"protein_id": "NP_001010888.3",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 8269,
"mane_select": "ENST00000338957.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010888.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "ENST00000338957.5",
"protein_id": "ENSP00000340839.4",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 8269,
"mane_select": "NM_001010888.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338957.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "ENST00000888353.1",
"protein_id": "ENSP00000558412.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888353.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "ENST00000916775.1",
"protein_id": "ENSP00000586834.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 7701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916775.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "ENST00000696370.1",
"protein_id": "ENSP00000512584.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 707,
"cds_start": 485,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696370.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "ENST00000696368.1",
"protein_id": "ENSP00000512583.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 366,
"cds_start": 485,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696368.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_011530939.3",
"protein_id": "XP_011529241.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 7502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530939.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_017029479.2",
"protein_id": "XP_016884968.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 5355,
"cdna_end": null,
"cdna_length": 12059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029479.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_017029480.2",
"protein_id": "XP_016884969.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 4812,
"cdna_end": null,
"cdna_length": 11516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029480.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_017029481.2",
"protein_id": "XP_016884970.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 4807,
"cdna_end": null,
"cdna_length": 11511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029481.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_017029482.2",
"protein_id": "XP_016884971.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 4717,
"cdna_end": null,
"cdna_length": 11421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029482.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_017029483.2",
"protein_id": "XP_016884972.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 4513,
"cdna_end": null,
"cdna_length": 11217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029483.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_017029484.2",
"protein_id": "XP_016884973.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 8123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029484.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_047442074.1",
"protein_id": "XP_047298030.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 8214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442074.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_047442075.1",
"protein_id": "XP_047298031.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 8218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442075.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_047442076.1",
"protein_id": "XP_047298032.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 8309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442076.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_047442077.1",
"protein_id": "XP_047298033.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 8157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442077.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_047442078.1",
"protein_id": "XP_047298034.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 7953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442078.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_047442079.1",
"protein_id": "XP_047298035.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 8248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442079.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg",
"transcript": "XM_047442080.1",
"protein_id": "XP_047298036.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 836,
"cds_start": 485,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442080.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"hgvs_c": "n.1048T>G",
"hgvs_p": null,
"transcript": "ENST00000617377.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000617377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "n.*851+34274A>C",
"hgvs_p": null,
"transcript": "ENST00000677056.1",
"protein_id": "ENSP00000504224.1",
"transcript_support_level": null,
"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": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677056.1"
}
],
"gene_symbol": "ZC3H12B",
"gene_hgnc_id": 17407,
"dbsnp": "rs369646034",
"frequency_reference_population": 0.00005868462,
"hom_count_reference_population": 25,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000437122,
"gnomad_genomes_af": 0.000205787,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007359206676483154,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.1178,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.642,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001010888.4",
"gene_symbol": "ZC3H12B",
"hgnc_id": 17407,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.485T>G",
"hgvs_p": "p.Leu162Arg"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000677056.1",
"gene_symbol": "LAS1L",
"hgnc_id": 25726,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,XL",
"hgvs_c": "n.*851+34274A>C",
"hgvs_p": null
}
],
"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
}