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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: 7-1546969-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=1546969&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 1546969,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001097620.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "NM_001097620.2",
"protein_id": "NP_001091089.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 6051,
"mane_select": "ENST00000297477.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001097620.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000297477.10",
"protein_id": "ENSP00000297477.4",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 6051,
"mane_select": "NM_001097620.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297477.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Pro414Ser",
"transcript": "ENST00000910337.1",
"protein_id": "ENSP00000580396.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 418,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910337.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000910336.1",
"protein_id": "ENSP00000580395.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910336.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000910339.1",
"protein_id": "ENSP00000580398.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910339.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000910340.1",
"protein_id": "ENSP00000580399.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910340.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000910342.1",
"protein_id": "ENSP00000580401.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910342.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000910344.1",
"protein_id": "ENSP00000580403.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910344.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000910345.1",
"protein_id": "ENSP00000580404.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910345.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000943039.1",
"protein_id": "ENSP00000613098.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943039.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser",
"transcript": "ENST00000943041.1",
"protein_id": "ENSP00000613100.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 413,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943041.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Pro378Ser",
"transcript": "ENST00000943040.1",
"protein_id": "ENSP00000613099.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 382,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "n.*648C>T",
"hgvs_p": null,
"transcript": "ENST00000319018.12",
"protein_id": "ENSP00000326348.7",
"transcript_support_level": 5,
"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": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000319018.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "n.2103C>T",
"hgvs_p": null,
"transcript": "ENST00000468535.5",
"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": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468535.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"hgvs_c": "n.*648C>T",
"hgvs_p": null,
"transcript": "ENST00000319018.12",
"protein_id": "ENSP00000326348.7",
"transcript_support_level": 5,
"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": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000319018.12"
}
],
"gene_symbol": "TMEM184A",
"gene_hgnc_id": 28797,
"dbsnp": "rs748216212",
"frequency_reference_population": 0.00015419454,
"hom_count_reference_population": 2,
"allele_count_reference_population": 245,
"gnomad_exomes_af": 0.000160067,
"gnomad_genomes_af": 0.0000986803,
"gnomad_exomes_ac": 230,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05017215013504028,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0833,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.861,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001097620.2",
"gene_symbol": "TMEM184A",
"hgnc_id": 28797,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Pro409Ser"
}
],
"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
}