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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: 20-46729397-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46729397&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 46729397,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030777.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Ala486Thr",
"transcript": "NM_030777.4",
"protein_id": "NP_110404.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 541,
"cds_start": 1456,
"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": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Ala486Thr",
"transcript": "ENST00000359271.4",
"protein_id": "ENSP00000352216.2",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 541,
"cds_start": 1456,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Ala584Thr",
"transcript": "ENST00000862794.1",
"protein_id": "ENSP00000532853.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 639,
"cds_start": 1750,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1588G>A",
"hgvs_p": "p.Ala530Thr",
"transcript": "ENST00000862792.1",
"protein_id": "ENSP00000532851.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 585,
"cds_start": 1588,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Ala486Thr",
"transcript": "ENST00000862793.1",
"protein_id": "ENSP00000532852.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 578,
"cds_start": 1456,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Ala511Thr",
"transcript": "ENST00000936502.1",
"protein_id": "ENSP00000606561.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 566,
"cds_start": 1531,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1528G>A",
"hgvs_p": "p.Ala510Thr",
"transcript": "ENST00000964823.1",
"protein_id": "ENSP00000634882.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 565,
"cds_start": 1528,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Ala500Thr",
"transcript": "ENST00000862795.1",
"protein_id": "ENSP00000532854.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 555,
"cds_start": 1498,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Ala496Thr",
"transcript": "ENST00000936505.1",
"protein_id": "ENSP00000606564.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 551,
"cds_start": 1486,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1333G>A",
"hgvs_p": "p.Ala445Thr",
"transcript": "ENST00000936507.1",
"protein_id": "ENSP00000606566.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 500,
"cds_start": 1333,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Ala298Thr",
"transcript": "ENST00000936504.1",
"protein_id": "ENSP00000606563.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 353,
"cds_start": 892,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Ala260Thr",
"transcript": "ENST00000964822.1",
"protein_id": "ENSP00000634881.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 315,
"cds_start": 778,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.172G>A",
"hgvs_p": "p.Ala58Thr",
"transcript": "ENST00000936506.1",
"protein_id": "ENSP00000606565.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 113,
"cds_start": 172,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Ala507Thr",
"transcript": "XM_011529060.3",
"protein_id": "XP_011527362.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 562,
"cds_start": 1519,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Ala489Thr",
"transcript": "XM_011529061.3",
"protein_id": "XP_011527363.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 544,
"cds_start": 1465,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1568G>A",
"hgvs_p": "p.Arg523His",
"transcript": "XM_047440528.1",
"protein_id": "XP_047296484.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 535,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440528.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1460+2411G>A",
"hgvs_p": null,
"transcript": "ENST00000936503.1",
"protein_id": "ENSP00000606562.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1523+2411G>A",
"hgvs_p": null,
"transcript": "XM_011529062.3",
"protein_id": "XP_011527364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 533,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1460+2411G>A",
"hgvs_p": null,
"transcript": "XM_047440529.1",
"protein_id": "XP_047296485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1474+2411G>A",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC2A10",
"gene_hgnc_id": 13444,
"hgvs_c": "c.1411+2411G>A",
"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": "rs759205774",
"frequency_reference_population": 0.00003221981,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000335214,
"gnomad_genomes_af": 0.0000197161,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7570300102233887,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.418,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1608,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.13,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030777.4",
"gene_symbol": "SLC2A10",
"hgnc_id": 13444,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Ala486Thr"
}
],
"clinvar_disease": "Arterial tortuosity syndrome,Familial thoracic aortic aneurysm and aortic dissection,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Arterial tortuosity syndrome|Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}