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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: 12-23665471-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=23665471&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 23665471,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006940.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Pro302Ser",
"transcript": "NM_006940.6",
"protein_id": "NP_008871.3",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 763,
"cds_start": 904,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451604.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006940.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Pro302Ser",
"transcript": "ENST00000451604.7",
"protein_id": "ENSP00000398273.2",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 763,
"cds_start": 904,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006940.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451604.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Pro302Ser",
"transcript": "ENST00000900854.1",
"protein_id": "ENSP00000570913.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 763,
"cds_start": 904,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900854.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Pro302Ser",
"transcript": "ENST00000900855.1",
"protein_id": "ENSP00000570914.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 763,
"cds_start": 904,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900855.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Pro302Ser",
"transcript": "ENST00000943211.1",
"protein_id": "ENSP00000613270.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 763,
"cds_start": 904,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943211.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Pro292Ser",
"transcript": "NM_001261415.3",
"protein_id": "NP_001248344.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 753,
"cds_start": 874,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261415.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Pro292Ser",
"transcript": "ENST00000545921.5",
"protein_id": "ENSP00000443520.1",
"transcript_support_level": 2,
"aa_start": 292,
"aa_end": null,
"aa_length": 753,
"cds_start": 874,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545921.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Pro289Ser",
"transcript": "NM_152989.5",
"protein_id": "NP_694534.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 750,
"cds_start": 865,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152989.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Pro267Ser",
"transcript": "NM_001330785.2",
"protein_id": "NP_001317714.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 728,
"cds_start": 799,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330785.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Pro267Ser",
"transcript": "ENST00000537393.5",
"protein_id": "ENSP00000439832.1",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 728,
"cds_start": 799,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537393.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Pro254Ser",
"transcript": "ENST00000704299.1",
"protein_id": "ENSP00000515823.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 715,
"cds_start": 760,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704299.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Pro289Ser",
"transcript": "NM_001261414.3",
"protein_id": "NP_001248343.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 642,
"cds_start": 865,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261414.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Pro289Ser",
"transcript": "ENST00000646273.1",
"protein_id": "ENSP00000493866.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 642,
"cds_start": 865,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646273.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Pro367Ser",
"transcript": "XM_011520832.3",
"protein_id": "XP_011519134.2",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 828,
"cds_start": 1099,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520832.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.1096C>T",
"hgvs_p": "p.Pro366Ser",
"transcript": "XM_047429451.1",
"protein_id": "XP_047285407.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 827,
"cds_start": 1096,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429451.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Pro332Ser",
"transcript": "XM_017019888.2",
"protein_id": "XP_016875377.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 793,
"cds_start": 994,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019888.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Pro331Ser",
"transcript": "XM_017019889.2",
"protein_id": "XP_016875378.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 792,
"cds_start": 991,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019889.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Pro327Ser",
"transcript": "XM_047429452.1",
"protein_id": "XP_047285408.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 788,
"cds_start": 979,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429452.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Pro326Ser",
"transcript": "XM_047429453.1",
"protein_id": "XP_047285409.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 787,
"cds_start": 976,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429453.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Pro293Ser",
"transcript": "XM_011520833.3",
"protein_id": "XP_011519135.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 754,
"cds_start": 877,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520833.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Pro292Ser",
"transcript": "XM_047429454.1",
"protein_id": "XP_047285410.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 753,
"cds_start": 874,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429454.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Pro291Ser",
"transcript": "XM_047429455.1",
"protein_id": "XP_047285411.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 752,
"cds_start": 871,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"dbsnp": "rs1057518928",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.5723380446434021,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.507,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0935,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.014,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006940.6",
"gene_symbol": "SOX5",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Epileptic encephalopathy,Generalized hypotonia,Severe global developmental delay",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Severe global developmental delay;Generalized hypotonia;Epileptic encephalopathy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}