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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: 12-23536546-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=23536546&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SOX5",
"hgnc_id": 11201,
"hgvs_c": "c.1895C>A",
"hgvs_p": "p.Thr632Asn",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_006940.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9973,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "12",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Intellectual disability,Lamb-Shaffer syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6741334199905396,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 763,
"aa_ref": "T",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7076,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_006940.6",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1895C>A",
"hgvs_p": "p.Thr632Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000451604.7",
"protein_coding": true,
"protein_id": "NP_008871.3",
"strand": false,
"transcript": "NM_006940.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 763,
"aa_ref": "T",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7076,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000451604.7",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1895C>A",
"hgvs_p": "p.Thr632Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006940.6",
"protein_coding": true,
"protein_id": "ENSP00000398273.2",
"strand": false,
"transcript": "ENST00000451604.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 377,
"aa_ref": "T",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1134,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000396007.6",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379328.2",
"strand": false,
"transcript": "ENST00000396007.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 763,
"aa_ref": "T",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 2624,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000900854.1",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1895C>A",
"hgvs_p": "p.Thr632Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570913.1",
"strand": false,
"transcript": "ENST00000900854.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 763,
"aa_ref": "T",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000900855.1",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1895C>A",
"hgvs_p": "p.Thr632Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570914.1",
"strand": false,
"transcript": "ENST00000900855.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 763,
"aa_ref": "T",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5770,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000943211.1",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1895C>A",
"hgvs_p": "p.Thr632Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613270.1",
"strand": false,
"transcript": "ENST00000943211.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 753,
"aa_ref": "T",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7028,
"cdna_start": 1916,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1865,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001261415.3",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1865C>A",
"hgvs_p": "p.Thr622Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248344.1",
"strand": false,
"transcript": "NM_001261415.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 753,
"aa_ref": "T",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1865,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000545921.5",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1865C>A",
"hgvs_p": "p.Thr622Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443520.1",
"strand": false,
"transcript": "ENST00000545921.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 750,
"aa_ref": "T",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7384,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1856,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_152989.5",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1856C>A",
"hgvs_p": "p.Thr619Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_694534.1",
"strand": false,
"transcript": "NM_152989.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 728,
"aa_ref": "T",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6971,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001330785.2",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Thr597Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317714.1",
"strand": false,
"transcript": "NM_001330785.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 728,
"aa_ref": "T",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000537393.5",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Thr597Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439832.1",
"strand": false,
"transcript": "ENST00000537393.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 715,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1751,
"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000704299.1",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1751C>A",
"hgvs_p": "p.Thr584Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515823.1",
"strand": false,
"transcript": "ENST00000704299.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7135,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1532,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001261414.3",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1532C>A",
"hgvs_p": "p.Thr511Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248343.1",
"strand": false,
"transcript": "NM_001261414.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 642,
"aa_ref": "T",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 1981,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1532,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000646273.1",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1532C>A",
"hgvs_p": "p.Thr511Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493866.1",
"strand": false,
"transcript": "ENST00000646273.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 377,
"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5883,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1134,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_178010.4",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Thr246Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_821078.1",
"strand": false,
"transcript": "NM_178010.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 347,
"aa_ref": "T",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1044,
"cds_start": 647,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000704296.1",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.647C>A",
"hgvs_p": "p.Thr216Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515820.1",
"strand": false,
"transcript": "ENST00000704296.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 828,
"aa_ref": "T",
"aa_start": 697,
"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7605,
"cdna_start": 2493,
"cds_end": null,
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"cds_start": 2090,
"consequences": [
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],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011520832.3",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.2090C>A",
"hgvs_p": "p.Thr697Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519134.2",
"strand": false,
"transcript": "XM_011520832.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_start": 2490,
"cds_end": null,
"cds_length": 2484,
"cds_start": 2087,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047429451.1",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.2087C>A",
"hgvs_p": "p.Thr696Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285407.1",
"strand": false,
"transcript": "XM_047429451.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 7500,
"cdna_start": 2388,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017019888.2",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1985C>A",
"hgvs_p": "p.Thr662Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875377.1",
"strand": false,
"transcript": "XM_017019888.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 792,
"aa_ref": "T",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7497,
"cdna_start": 2385,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017019889.2",
"gene_hgnc_id": 11201,
"gene_symbol": "SOX5",
"hgvs_c": "c.1982C>A",
"hgvs_p": "p.Thr661Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875378.1",
"strand": false,
"transcript": "XM_017019889.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 788,
"aa_ref": "T",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7129,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1970,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047429452.1",
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