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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: 10-18550421-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=18550421&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 18550421,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_182543.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1071+1402T>A",
"hgvs_p": null,
"transcript": "NM_182543.5",
"protein_id": "NP_872349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377304.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182543.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1071+1402T>A",
"hgvs_p": null,
"transcript": "ENST00000377304.7",
"protein_id": "ENSP00000366519.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182543.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377304.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1068+1402T>A",
"hgvs_p": null,
"transcript": "NM_001351115.2",
"protein_id": "NP_001338044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 468,
"cds_start": null,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351115.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1035+1402T>A",
"hgvs_p": null,
"transcript": "NM_001351116.2",
"protein_id": "NP_001338045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351116.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.915+1402T>A",
"hgvs_p": null,
"transcript": "NM_001351117.2",
"protein_id": "NP_001338046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351117.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.648+1402T>A",
"hgvs_p": null,
"transcript": "NM_001351118.2",
"protein_id": "NP_001338047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351118.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1083+1402T>A",
"hgvs_p": null,
"transcript": "XM_047424777.1",
"protein_id": "XP_047280733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424777.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1080+1402T>A",
"hgvs_p": null,
"transcript": "XM_011519383.2",
"protein_id": "XP_011517685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": null,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519383.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1047+1402T>A",
"hgvs_p": null,
"transcript": "XM_011519384.2",
"protein_id": "XP_011517686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519384.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1047+1402T>A",
"hgvs_p": null,
"transcript": "XM_011519385.2",
"protein_id": "XP_011517687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519385.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1047+1402T>A",
"hgvs_p": null,
"transcript": "XM_011519386.3",
"protein_id": "XP_011517688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519386.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1047+1402T>A",
"hgvs_p": null,
"transcript": "XM_017015907.3",
"protein_id": "XP_016871396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
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"cds_length": 1386,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015907.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1035+1402T>A",
"hgvs_p": null,
"transcript": "XM_024447884.2",
"protein_id": "XP_024303652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
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"cds_length": 1374,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447884.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1035+1402T>A",
"hgvs_p": null,
"transcript": "XM_047424778.1",
"protein_id": "XP_047280734.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047424778.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1032+1402T>A",
"hgvs_p": null,
"transcript": "XM_047424779.1",
"protein_id": "XP_047280735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424779.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.927+1402T>A",
"hgvs_p": null,
"transcript": "XM_011519387.3",
"protein_id": "XP_011517689.1",
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519387.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1093+1392T>A",
"hgvs_p": null,
"transcript": "XM_047424780.1",
"protein_id": "XP_047280736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
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"cds_length": 1134,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424780.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.786+1402T>A",
"hgvs_p": null,
"transcript": "XM_047424781.1",
"protein_id": "XP_047280737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": null,
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"cds_length": 1125,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424781.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.1081+1392T>A",
"hgvs_p": null,
"transcript": "XM_047424782.1",
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"feature": "XM_047424782.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.660+1402T>A",
"hgvs_p": null,
"transcript": "XM_017015912.3",
"protein_id": "XP_016871401.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017015912.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "c.660+1402T>A",
"hgvs_p": null,
"transcript": "XM_047424783.1",
"protein_id": "XP_047280739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
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"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424783.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"hgvs_c": "n.105+1297T>A",
"hgvs_p": null,
"transcript": "ENST00000493816.1",
"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": "pseudogene",
"feature": "ENST00000493816.1"
}
],
"gene_symbol": "NSUN6",
"gene_hgnc_id": 23529,
"dbsnp": "rs6482516",
"frequency_reference_population": 0.0000065763516,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657635,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.132,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_182543.5",
"gene_symbol": "NSUN6",
"hgnc_id": 23529,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1071+1402T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}