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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: 1-1296491-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1296491&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1296491,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000354700.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Pro424Leu",
"transcript": "NM_030649.3",
"protein_id": "NP_085152.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 834,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": "ENST00000354700.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Pro424Leu",
"transcript": "ENST00000354700.10",
"protein_id": "ENSP00000346733.5",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 834,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": "NM_030649.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1145C>T",
"hgvs_p": "p.Pro382Leu",
"transcript": "ENST00000353662.4",
"protein_id": "ENSP00000321139.4",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 759,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "n.797C>T",
"hgvs_p": null,
"transcript": "ENST00000467278.5",
"protein_id": null,
"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": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "n.3010C>T",
"hgvs_p": null,
"transcript": "ENST00000492936.5",
"protein_id": null,
"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": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"transcript": "XM_011540606.3",
"protein_id": "XP_011538908.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 844,
"cds_start": 1301,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"transcript": "XM_011540607.2",
"protein_id": "XP_011538909.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 844,
"cds_start": 1301,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Pro424Leu",
"transcript": "XM_024452993.2",
"protein_id": "XP_024308761.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 834,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 3742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1205C>T",
"hgvs_p": "p.Pro402Leu",
"transcript": "XM_011540608.3",
"protein_id": "XP_011538910.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 812,
"cds_start": 1205,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"transcript": "XM_011540609.3",
"protein_id": "XP_011538911.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 811,
"cds_start": 1301,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 3724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Pro424Leu",
"transcript": "XM_005244715.3",
"protein_id": "XP_005244772.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 801,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Pro83Leu",
"transcript": "XM_005244717.4",
"protein_id": "XP_005244774.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 493,
"cds_start": 248,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "n.437C>T",
"hgvs_p": null,
"transcript": "ENST00000379037.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "n.794C>T",
"hgvs_p": null,
"transcript": "ENST00000476572.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"dbsnp": "rs570241461",
"frequency_reference_population": 0.000016197038,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000115011,
"gnomad_genomes_af": 0.0000590846,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0763985812664032,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.0848,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.301,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000354700.10",
"gene_symbol": "ACAP3",
"hgnc_id": 16754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Pro424Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}