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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: 20-46733813-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46733813&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 46733813,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_030777.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1605C>T",
"hgvs_p": "p.Ile535Ile",
"transcript": "NM_030777.4",
"protein_id": "NP_110404.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 541,
"cds_start": 1605,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359271.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030777.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1605C>T",
"hgvs_p": "p.Ile535Ile",
"transcript": "ENST00000359271.4",
"protein_id": "ENSP00000352216.2",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 541,
"cds_start": 1605,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030777.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359271.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1899C>T",
"hgvs_p": "p.Ile633Ile",
"transcript": "ENST00000862794.1",
"protein_id": "ENSP00000532853.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 639,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862794.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1737C>T",
"hgvs_p": "p.Ile579Ile",
"transcript": "ENST00000862792.1",
"protein_id": "ENSP00000532851.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 585,
"cds_start": 1737,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862792.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1716C>T",
"hgvs_p": "p.Ile572Ile",
"transcript": "ENST00000862793.1",
"protein_id": "ENSP00000532852.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 578,
"cds_start": 1716,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862793.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1680C>T",
"hgvs_p": "p.Ile560Ile",
"transcript": "ENST00000936502.1",
"protein_id": "ENSP00000606561.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 566,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936502.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1677C>T",
"hgvs_p": "p.Ile559Ile",
"transcript": "ENST00000964823.1",
"protein_id": "ENSP00000634882.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 565,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964823.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.Ile549Ile",
"transcript": "ENST00000862795.1",
"protein_id": "ENSP00000532854.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 555,
"cds_start": 1647,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862795.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1635C>T",
"hgvs_p": "p.Ile545Ile",
"transcript": "ENST00000936505.1",
"protein_id": "ENSP00000606564.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 551,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936505.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1518C>T",
"hgvs_p": "p.Ile506Ile",
"transcript": "ENST00000936503.1",
"protein_id": "ENSP00000606562.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 512,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936503.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Ile494Ile",
"transcript": "ENST00000936507.1",
"protein_id": "ENSP00000606566.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 500,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936507.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1041C>T",
"hgvs_p": "p.Ile347Ile",
"transcript": "ENST00000936504.1",
"protein_id": "ENSP00000606563.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 353,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936504.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Ile309Ile",
"transcript": "ENST00000964822.1",
"protein_id": "ENSP00000634881.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 315,
"cds_start": 927,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964822.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.321C>T",
"hgvs_p": "p.Ile107Ile",
"transcript": "ENST00000936506.1",
"protein_id": "ENSP00000606565.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 113,
"cds_start": 321,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936506.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1668C>T",
"hgvs_p": "p.Ile556Ile",
"transcript": "XM_011529060.3",
"protein_id": "XP_011527362.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 562,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529060.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Ile538Ile",
"transcript": "XM_011529061.3",
"protein_id": "XP_011527363.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 544,
"cds_start": 1614,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529061.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.Ile527Ile",
"transcript": "XM_011529062.3",
"protein_id": "XP_011527364.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 533,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529062.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1518C>T",
"hgvs_p": "p.Ile506Ile",
"transcript": "XM_047440529.1",
"protein_id": "XP_047296485.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 512,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.*47C>T",
"hgvs_p": null,
"transcript": "XM_011529065.3",
"protein_id": "XP_011527367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529065.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.*47C>T",
"hgvs_p": null,
"transcript": "XM_017028087.3",
"protein_id": "XP_016883576.1",
"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_017028087.3"
}
],
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"dbsnp": "rs148470005",
"frequency_reference_population": 0.000086733926,
"hom_count_reference_population": 0,
"allele_count_reference_population": 140,
"gnomad_exomes_af": 0.0000868781,
"gnomad_genomes_af": 0.00008535,
"gnomad_exomes_ac": 127,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"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": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.246,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_030777.4",
"gene_symbol": "SLC2A10",
"hgnc_id": 13444,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1605C>T",
"hgvs_p": "p.Ile535Ile"
}
],
"clinvar_disease": "Arterial tortuosity syndrome,Familial thoracic aortic aneurysm and aortic dissection,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4",
"phenotype_combined": "Arterial tortuosity syndrome|not provided|Familial thoracic aortic aneurysm and aortic dissection|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}