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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: 17-19681583-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19681583&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19681583,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152908.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1252C>A",
"hgvs_p": "p.Pro418Thr",
"transcript": "NM_001099646.3",
"protein_id": "NP_001093116.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 566,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000433844.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099646.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1252C>A",
"hgvs_p": "p.Pro418Thr",
"transcript": "ENST00000433844.4",
"protein_id": "ENSP00000391848.3",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 566,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099646.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433844.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Pro454Thr",
"transcript": "ENST00000325411.9",
"protein_id": "ENSP00000326671.5",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 602,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325411.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1294C>A",
"hgvs_p": "p.Pro432Thr",
"transcript": "ENST00000350657.9",
"protein_id": "ENSP00000338084.6",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 580,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350657.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1922C>A",
"hgvs_p": null,
"transcript": "ENST00000463318.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463318.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.*670C>A",
"hgvs_p": null,
"transcript": "ENST00000574239.5",
"protein_id": "ENSP00000458694.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000574239.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.*670C>A",
"hgvs_p": null,
"transcript": "ENST00000574239.5",
"protein_id": "ENSP00000458694.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000574239.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Pro454Thr",
"transcript": "NM_152908.5",
"protein_id": "NP_690872.2",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 602,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152908.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1294C>A",
"hgvs_p": "p.Pro432Thr",
"transcript": "NM_001256663.3",
"protein_id": "NP_001243592.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 580,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256663.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1249C>A",
"hgvs_p": "p.Pro417Thr",
"transcript": "ENST00000909299.1",
"protein_id": "ENSP00000579358.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 565,
"cds_start": 1249,
"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": "ENST00000909299.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1246C>A",
"hgvs_p": "p.Pro416Thr",
"transcript": "ENST00000909297.1",
"protein_id": "ENSP00000579356.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 564,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909297.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1138C>A",
"hgvs_p": "p.Pro380Thr",
"transcript": "ENST00000909298.1",
"protein_id": "ENSP00000579357.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 528,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909298.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Pro468Thr",
"transcript": "XM_017024221.2",
"protein_id": "XP_016879710.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 616,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024221.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Pro419Thr",
"transcript": "XM_017024222.3",
"protein_id": "XP_016879711.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 567,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024222.3"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1444-3692G>T",
"hgvs_p": null,
"transcript": "ENST00000671878.1",
"protein_id": "ENSP00000500516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": null,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671878.1"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1444-3692G>T",
"hgvs_p": null,
"transcript": "ENST00000672465.1",
"protein_id": "ENSP00000500517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": null,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672465.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.1097-3692G>T",
"hgvs_p": null,
"transcript": "ENST00000672567.1",
"protein_id": "ENSP00000500777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": null,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1305C>A",
"hgvs_p": null,
"transcript": "ENST00000467609.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1922C>A",
"hgvs_p": null,
"transcript": "NR_135624.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135624.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1359C>A",
"hgvs_p": null,
"transcript": "NR_135625.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135625.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.*3C>A",
"hgvs_p": null,
"transcript": "XR_001752432.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001752432.2"
}
],
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"dbsnp": "rs139110700",
"frequency_reference_population": 0.0007427948,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1199,
"gnomad_exomes_af": 0.000783916,
"gnomad_genomes_af": 0.000348039,
"gnomad_exomes_ac": 1146,
"gnomad_genomes_ac": 53,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4595787525177002,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.348,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.949,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_152908.5",
"gene_symbol": "SLC47A2",
"hgnc_id": 26439,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Pro454Thr"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000671878.1",
"gene_symbol": "ALDH3A2",
"hgnc_id": 403,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1444-3692G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}