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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: 2-175179243-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=175179243&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 175179243,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001689.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "NM_001689.5",
"protein_id": "NP_001680.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000284727.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001689.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "ENST00000284727.9",
"protein_id": "ENSP00000284727.4",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001689.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284727.9"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "ENST00000392541.3",
"protein_id": "ENSP00000376324.3",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392541.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Met",
"transcript": "ENST00000941362.1",
"protein_id": "ENSP00000611421.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 144,
"cds_start": 134,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941362.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "NM_001002258.5",
"protein_id": "NP_001002258.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002258.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "ENST00000409194.5",
"protein_id": "ENSP00000387317.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409194.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "ENST00000877858.1",
"protein_id": "ENSP00000547917.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877858.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "ENST00000877860.1",
"protein_id": "ENSP00000547919.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877860.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "ENST00000877861.1",
"protein_id": "ENSP00000547920.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877861.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "ENST00000937346.1",
"protein_id": "ENSP00000607405.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937346.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "ENST00000937347.1",
"protein_id": "ENSP00000607406.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937347.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "ENST00000937348.1",
"protein_id": "ENSP00000607407.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937348.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "ENST00000937349.1",
"protein_id": "ENSP00000607408.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 142,
"cds_start": 128,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937349.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Met",
"transcript": "ENST00000877859.1",
"protein_id": "ENSP00000547918.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 115,
"cds_start": 47,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877859.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Met",
"transcript": "ENST00000937350.1",
"protein_id": "ENSP00000607409.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 115,
"cds_start": 47,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937350.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met",
"transcript": "NM_001190329.2",
"protein_id": "NP_001177258.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 105,
"cds_start": 128,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190329.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"hgvs_c": "n.256C>T",
"hgvs_p": null,
"transcript": "ENST00000497075.5",
"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": "ENST00000497075.5"
}
],
"gene_symbol": "ATP5MC3",
"gene_hgnc_id": 843,
"dbsnp": "rs753010476",
"frequency_reference_population": 0.000022398088,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000226779,
"gnomad_genomes_af": 0.0000197218,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1085214614868164,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.0834,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.235,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001689.5",
"gene_symbol": "ATP5MC3",
"hgnc_id": 843,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Thr43Met"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}