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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: 12-23740986-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=23740986&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 23740986,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000451604.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Gln208*",
"transcript": "NM_006940.6",
"protein_id": "NP_008871.3",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 763,
"cds_start": 622,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 7076,
"mane_select": "ENST00000451604.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Gln208*",
"transcript": "ENST00000451604.7",
"protein_id": "ENSP00000398273.2",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 763,
"cds_start": 622,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 7076,
"mane_select": "NM_006940.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Gln198*",
"transcript": "NM_001261415.3",
"protein_id": "NP_001248344.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 753,
"cds_start": 592,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 7028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Gln198*",
"transcript": "ENST00000545921.5",
"protein_id": "ENSP00000443520.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 753,
"cds_start": 592,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Gln195*",
"transcript": "NM_152989.5",
"protein_id": "NP_694534.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 750,
"cds_start": 583,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 7384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Gln173*",
"transcript": "NM_001330785.2",
"protein_id": "NP_001317714.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 728,
"cds_start": 517,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 6971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Gln173*",
"transcript": "ENST00000537393.5",
"protein_id": "ENSP00000439832.1",
"transcript_support_level": 5,
"aa_start": 173,
"aa_end": null,
"aa_length": 728,
"cds_start": 517,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Gln160*",
"transcript": "ENST00000704299.1",
"protein_id": "ENSP00000515823.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 715,
"cds_start": 478,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Gln195*",
"transcript": "NM_001261414.3",
"protein_id": "NP_001248343.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 642,
"cds_start": 583,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 7135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Gln195*",
"transcript": "ENST00000646273.1",
"protein_id": "ENSP00000493866.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 642,
"cds_start": 583,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Gln195*",
"transcript": "ENST00000704300.1",
"protein_id": "ENSP00000515824.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 228,
"cds_start": 583,
"cds_end": null,
"cds_length": 688,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Gln272*",
"transcript": "XM_011520832.3",
"protein_id": "XP_011519134.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 828,
"cds_start": 814,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 7605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Gln272*",
"transcript": "XM_047429451.1",
"protein_id": "XP_047285407.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 827,
"cds_start": 814,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 7602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Gln237*",
"transcript": "XM_017019888.2",
"protein_id": "XP_016875377.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 793,
"cds_start": 709,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 7500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Gln237*",
"transcript": "XM_017019889.2",
"protein_id": "XP_016875378.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 792,
"cds_start": 709,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 7497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "XM_047429452.1",
"protein_id": "XP_047285408.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 788,
"cds_start": 694,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 7129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "XM_047429453.1",
"protein_id": "XP_047285409.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 787,
"cds_start": 694,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 7126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Gln198*",
"transcript": "XM_011520833.3",
"protein_id": "XP_011519135.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 754,
"cds_start": 592,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 7031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Gln197*",
"transcript": "XM_047429454.1",
"protein_id": "XP_047285410.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 753,
"cds_start": 589,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 7024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.589C>T",
"hgvs_p": "p.Gln197*",
"transcript": "XM_047429455.1",
"protein_id": "XP_047285411.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 752,
"cds_start": 589,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 7021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Gln195*",
"transcript": "XM_011520835.3",
"protein_id": "XP_011519137.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 751,
"cds_start": 583,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 7387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Gln195*",
"transcript": "XM_011520837.3",
"protein_id": "XP_011519139.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 751,
"cds_start": 583,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 7114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Gln195*",
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},
{
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},
{
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"consequences": [
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],
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},
{
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"gene_symbol": "SOX5",
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},
{
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],
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"gene_symbol": "ENSG00000296429",
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}
],
"gene_symbol": "SOX5",
"gene_hgnc_id": 11201,
"dbsnp": "rs1555307370",
"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,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"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": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.471,
"phylop100way_prediction": "Pathogenic",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000451604.7",
"gene_symbol": "SOX5",
"hgnc_id": 11201,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Gln208*"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000739613.1",
"gene_symbol": "ENSG00000296429",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.220+2130G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Lamb-Shaffer syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Lamb-Shaffer syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}