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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: 4-957391-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=957391&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 957391,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000264771.9",
"consequences": [
{
"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.843-433G>A",
"hgvs_p": null,
"transcript": "NM_032326.4",
"protein_id": "NP_115702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": "ENST00000264771.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.843-433G>A",
"hgvs_p": null,
"transcript": "ENST00000264771.9",
"protein_id": "ENSP00000264771.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": "NM_032326.4",
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.495-433G>A",
"hgvs_p": null,
"transcript": "ENST00000622959.3",
"protein_id": "ENSP00000485461.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "n.*865-433G>A",
"hgvs_p": null,
"transcript": "ENST00000513952.5",
"protein_id": "ENSP00000427218.1",
"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": 2084,
"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.597-433G>A",
"hgvs_p": null,
"transcript": "NM_001297423.2",
"protein_id": "NP_001284352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2248,
"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.597-433G>A",
"hgvs_p": null,
"transcript": "NM_001297424.2",
"protein_id": "NP_001284353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1564,
"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.597-433G>A",
"hgvs_p": null,
"transcript": "NM_001297425.2",
"protein_id": "NP_001284354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1561,
"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.597-433G>A",
"hgvs_p": null,
"transcript": "ENST00000508204.5",
"protein_id": "ENSP00000423669.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1399,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.495-433G>A",
"hgvs_p": null,
"transcript": "NM_001297426.2",
"protein_id": "NP_001284355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2028,
"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.495-433G>A",
"hgvs_p": null,
"transcript": "NM_001297427.2",
"protein_id": "NP_001284356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2284,
"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.495-433G>A",
"hgvs_p": null,
"transcript": "NM_001297428.2",
"protein_id": "NP_001284357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
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"cdna_length": 1600,
"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.495-433G>A",
"hgvs_p": null,
"transcript": "ENST00000515740.5",
"protein_id": "ENSP00000427039.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.597-433G>A",
"hgvs_p": null,
"transcript": "ENST00000510493.5",
"protein_id": "ENSP00000424208.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 283,
"cds_start": -4,
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"cds_length": 852,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.597-433G>A",
"hgvs_p": null,
"transcript": "ENST00000515492.5",
"protein_id": "ENSP00000425867.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
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"gene_symbol": "TMEM175",
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"hgvs_c": "n.1404-433G>A",
"hgvs_p": null,
"transcript": "ENST00000438836.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.843-433G>A",
"hgvs_p": null,
"transcript": "XM_017008701.2",
"protein_id": "XP_016864190.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.759-433G>A",
"hgvs_p": null,
"transcript": "XM_005272301.3",
"protein_id": "XP_005272358.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.597-433G>A",
"hgvs_p": null,
"transcript": "XM_047416293.1",
"protein_id": "XP_047272249.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 422,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.597-433G>A",
"hgvs_p": null,
"transcript": "XM_047416294.1",
"protein_id": "XP_047272250.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "TMEM175",
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"hgvs_c": "c.513-433G>A",
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"transcript": "XM_047416295.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.411-433G>A",
"hgvs_p": null,
"transcript": "XM_047416296.1",
"protein_id": "XP_047272252.1",
"transcript_support_level": null,
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"feature": null
}
],
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"dbsnp": "rs1051613",
"frequency_reference_population": 0.5307672,
"hom_count_reference_population": 21971,
"allele_count_reference_population": 80735,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.530767,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 80735,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 21971,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"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": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.382,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000264771.9",
"gene_symbol": "TMEM175",
"hgnc_id": 28709,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.843-433G>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
}