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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: 3-179574447-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179574447&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 179574447,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004301.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.456C>G",
"hgvs_p": "p.Cys152Trp",
"transcript": "NM_004301.5",
"protein_id": "NP_004292.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 429,
"cds_start": 456,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429709.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004301.5"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.456C>G",
"hgvs_p": "p.Cys152Trp",
"transcript": "ENST00000429709.7",
"protein_id": "ENSP00000397552.2",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 429,
"cds_start": 456,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004301.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429709.7"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Cys110Trp",
"transcript": "ENST00000450518.6",
"protein_id": "ENSP00000394014.2",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 387,
"cds_start": 330,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450518.6"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.450C>G",
"hgvs_p": "p.Cys150Trp",
"transcript": "ENST00000879836.1",
"protein_id": "ENSP00000549895.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 427,
"cds_start": 450,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879836.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.456C>G",
"hgvs_p": "p.Cys152Trp",
"transcript": "ENST00000941894.1",
"protein_id": "ENSP00000611953.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 424,
"cds_start": 456,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941894.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.456C>G",
"hgvs_p": "p.Cys152Trp",
"transcript": "ENST00000937856.1",
"protein_id": "ENSP00000607915.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 402,
"cds_start": 456,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937856.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.456C>G",
"hgvs_p": "p.Cys152Trp",
"transcript": "ENST00000879837.1",
"protein_id": "ENSP00000549896.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 400,
"cds_start": 456,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879837.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.360C>G",
"hgvs_p": "p.Cys120Trp",
"transcript": "ENST00000937854.1",
"protein_id": "ENSP00000607913.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 397,
"cds_start": 360,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937854.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Cys110Trp",
"transcript": "NM_177989.4",
"protein_id": "NP_817126.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 387,
"cds_start": 330,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177989.4"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Cys110Trp",
"transcript": "NM_178042.4",
"protein_id": "NP_829888.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 387,
"cds_start": 330,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178042.4"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Cys110Trp",
"transcript": "ENST00000392662.5",
"protein_id": "ENSP00000376430.1",
"transcript_support_level": 2,
"aa_start": 110,
"aa_end": null,
"aa_length": 387,
"cds_start": 330,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392662.5"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.303C>G",
"hgvs_p": "p.Cys101Trp",
"transcript": "ENST00000879835.1",
"protein_id": "ENSP00000549894.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 378,
"cds_start": 303,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879835.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.264C>G",
"hgvs_p": "p.Cys88Trp",
"transcript": "ENST00000937855.1",
"protein_id": "ENSP00000607914.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 365,
"cds_start": 264,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937855.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.Cys60Trp",
"transcript": "ENST00000937853.1",
"protein_id": "ENSP00000607912.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 337,
"cds_start": 180,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "n.95C>G",
"hgvs_p": null,
"transcript": "ENST00000467383.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000467383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "n.482C>G",
"hgvs_p": null,
"transcript": "ENST00000468767.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000468767.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "n.314C>G",
"hgvs_p": null,
"transcript": "ENST00000486471.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000486471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "n.438C>G",
"hgvs_p": null,
"transcript": "ENST00000487978.5",
"protein_id": "ENSP00000420694.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487978.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"hgvs_c": "n.475C>G",
"hgvs_p": null,
"transcript": "ENST00000494843.5",
"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": "ENST00000494843.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124909462",
"gene_hgnc_id": null,
"hgvs_c": "n.85+2315G>C",
"hgvs_p": null,
"transcript": "XR_007096181.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007096181.1"
}
],
"gene_symbol": "ACTL6A",
"gene_hgnc_id": 24124,
"dbsnp": "rs111350774",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.933851957321167,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.854,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.563,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004301.5",
"gene_symbol": "ACTL6A",
"hgnc_id": 24124,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.456C>G",
"hgvs_p": "p.Cys152Trp"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007096181.1",
"gene_symbol": "LOC124909462",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.85+2315G>C",
"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
}