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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: 12-10179599-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=10179599&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 10179599,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001079815.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "NM_001384896.1",
"protein_id": "NP_001371825.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 183,
"cds_start": 25,
"cds_end": null,
"cds_length": 552,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": "ENST00000543484.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384896.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "ENST00000543484.2",
"protein_id": "ENSP00000445582.2",
"transcript_support_level": 4,
"aa_start": 9,
"aa_end": null,
"aa_length": 183,
"cds_start": 25,
"cds_end": null,
"cds_length": 552,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": "NM_001384896.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543484.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.9G>T",
"hgvs_p": "p.Trp3Cys",
"transcript": "ENST00000298530.7",
"protein_id": "ENSP00000298530.3",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 163,
"cds_start": 9,
"cds_end": null,
"cds_length": 492,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298530.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "NM_001079815.2",
"protein_id": "NP_001073283.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 183,
"cds_start": 25,
"cds_end": null,
"cds_length": 552,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079815.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "NM_001384894.1",
"protein_id": "NP_001371823.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 183,
"cds_start": 25,
"cds_end": null,
"cds_length": 552,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384894.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "NM_001384895.1",
"protein_id": "NP_001371824.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 183,
"cds_start": 25,
"cds_end": null,
"cds_length": 552,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384895.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "ENST00000381923.6",
"protein_id": "ENSP00000371348.2",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 183,
"cds_start": 25,
"cds_end": null,
"cds_length": 552,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381923.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "ENST00000859443.1",
"protein_id": "ENSP00000529502.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 183,
"cds_start": 25,
"cds_end": null,
"cds_length": 552,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859443.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "ENST00000965685.1",
"protein_id": "ENSP00000635744.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 183,
"cds_start": 25,
"cds_end": null,
"cds_length": 552,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965685.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "ENST00000965687.1",
"protein_id": "ENSP00000635746.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 183,
"cds_start": 25,
"cds_end": null,
"cds_length": 552,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965687.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "ENST00000965688.1",
"protein_id": "ENSP00000635747.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 183,
"cds_start": 25,
"cds_end": null,
"cds_length": 552,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965688.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "ENST00000859444.1",
"protein_id": "ENSP00000529503.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 176,
"cds_start": 25,
"cds_end": null,
"cds_length": 531,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859444.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "NM_001384897.1",
"protein_id": "NP_001371826.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 170,
"cds_start": 25,
"cds_end": null,
"cds_length": 513,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384897.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "ENST00000859442.1",
"protein_id": "ENSP00000529501.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 170,
"cds_start": 25,
"cds_end": null,
"cds_length": 513,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859442.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser",
"transcript": "ENST00000965686.1",
"protein_id": "ENSP00000635745.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 170,
"cds_start": 25,
"cds_end": null,
"cds_length": 513,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965686.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.9G>T",
"hgvs_p": "p.Trp3Cys",
"transcript": "NM_001384898.1",
"protein_id": "NP_001371827.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 163,
"cds_start": 9,
"cds_end": null,
"cds_length": 492,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384898.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"hgvs_c": "c.9G>T",
"hgvs_p": "p.Trp3Cys",
"transcript": "NM_153022.4",
"protein_id": "NP_694567.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 163,
"cds_start": 9,
"cds_end": null,
"cds_length": 492,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153022.4"
}
],
"gene_symbol": "TMEM52B",
"gene_hgnc_id": 26438,
"dbsnp": "rs140071448",
"frequency_reference_population": 0.0002651511,
"hom_count_reference_population": 0,
"allele_count_reference_population": 428,
"gnomad_exomes_af": 0.000269517,
"gnomad_genomes_af": 0.000223247,
"gnomad_exomes_ac": 394,
"gnomad_genomes_ac": 34,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01544150710105896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.17,
"revel_prediction": "Benign",
"alphamissense_score": 0.0766,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.495,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001079815.2",
"gene_symbol": "TMEM52B",
"hgnc_id": 26438,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Ala9Ser"
}
],
"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
}