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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: 17-19678716-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19678716&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19678716,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000433844.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Leu557Leu",
"transcript": "NM_001099646.3",
"protein_id": "NP_001093116.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 566,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": "ENST00000433844.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Leu557Leu",
"transcript": "ENST00000433844.4",
"protein_id": "ENSP00000391848.3",
"transcript_support_level": 5,
"aa_start": 557,
"aa_end": null,
"aa_length": 566,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": "NM_001099646.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Leu593Leu",
"transcript": "ENST00000325411.9",
"protein_id": "ENSP00000326671.5",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 602,
"cds_start": 1779,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1713C>T",
"hgvs_p": "p.Leu571Leu",
"transcript": "ENST00000350657.9",
"protein_id": "ENSP00000338084.6",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 580,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.2341C>T",
"hgvs_p": null,
"transcript": "ENST00000463318.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.*1089C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.*1089C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Leu593Leu",
"transcript": "NM_152908.5",
"protein_id": "NP_690872.2",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 602,
"cds_start": 1779,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 2207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1713C>T",
"hgvs_p": "p.Leu571Leu",
"transcript": "NM_001256663.3",
"protein_id": "NP_001243592.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 580,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1821C>T",
"hgvs_p": "p.Leu607Leu",
"transcript": "XM_017024221.2",
"protein_id": "XP_016879710.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 616,
"cds_start": 1821,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "c.1674C>T",
"hgvs_p": "p.Leu558Leu",
"transcript": "XM_017024222.3",
"protein_id": "XP_016879711.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 567,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 2567,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1800C>T",
"hgvs_p": null,
"transcript": "ENST00000467609.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.2341C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"hgvs_c": "n.1778C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.1444-6559G>A",
"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": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.1444-6559G>A",
"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": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.1097-6559G>A",
"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": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC47A2",
"gene_hgnc_id": 26439,
"dbsnp": "rs71369435",
"frequency_reference_population": 0.00043208033,
"hom_count_reference_population": 1,
"allele_count_reference_population": 697,
"gnomad_exomes_af": 0.000459298,
"gnomad_genomes_af": 0.000170828,
"gnomad_exomes_ac": 671,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.742,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000433844.4",
"gene_symbol": "SLC47A2",
"hgnc_id": 26439,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Leu557Leu"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000671878.1",
"gene_symbol": "ALDH3A2",
"hgnc_id": 403,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1444-6559G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}