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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: 15-34791250-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34791250&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACTC1",
"hgnc_id": 143,
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_005159.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GJD2-DT",
"hgnc_id": 55560,
"hgvs_c": "n.299+13819A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000503496.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.8937,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.47,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Primary familial hypertrophic cardiomyopathy,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.8887569904327393,
"computational_source_selected": "CardioboostCm",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1134,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_005159.5",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000290378.6",
"protein_coding": true,
"protein_id": "NP_005150.1",
"strand": false,
"transcript": "NM_005159.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1134,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000290378.6",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005159.5",
"protein_coding": true,
"protein_id": "ENSP00000290378.4",
"strand": false,
"transcript": "ENST00000290378.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 414,
"aa_ref": "M",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1498,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 1245,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713613.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.965T>C",
"hgvs_p": "p.Met322Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518909.1",
"strand": false,
"transcript": "ENST00000713613.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 379,
"aa_ref": "M",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1393,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1140,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000868408.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.860T>C",
"hgvs_p": "p.Met287Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538467.1",
"strand": false,
"transcript": "ENST00000868408.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1134,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001406482.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393411.1",
"strand": false,
"transcript": "NM_001406482.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1134,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001406483.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393412.1",
"strand": false,
"transcript": "NM_001406483.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1134,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713610.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518905.1",
"strand": false,
"transcript": "ENST00000713610.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1435,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1134,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713615.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518911.1",
"strand": false,
"transcript": "ENST00000713615.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 1134,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000868405.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538464.1",
"strand": false,
"transcript": "ENST00000868405.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1134,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000953688.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623747.1",
"strand": false,
"transcript": "ENST00000953688.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 374,
"aa_ref": "M",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 1125,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920920.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Met282Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590979.1",
"strand": false,
"transcript": "ENST00000920920.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 367,
"aa_ref": "M",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1104,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000953689.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.824T>C",
"hgvs_p": "p.Met275Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623748.1",
"strand": false,
"transcript": "ENST00000953689.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 352,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1059,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000868406.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538465.1",
"strand": false,
"transcript": "ENST00000868406.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 332,
"aa_ref": "M",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 999,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001406484.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.719T>C",
"hgvs_p": "p.Met240Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393413.1",
"strand": false,
"transcript": "NM_001406484.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 323,
"aa_ref": "M",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1225,
"cdna_start": 758,
"cds_end": null,
"cds_length": 972,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000868407.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.692T>C",
"hgvs_p": "p.Met231Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538466.1",
"strand": false,
"transcript": "ENST00000868407.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 313,
"aa_ref": "M",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1190,
"cdna_start": 728,
"cds_end": null,
"cds_length": 942,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000713616.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Met221Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518912.1",
"strand": false,
"transcript": "ENST00000713616.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 230,
"aa_ref": "M",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 948,
"cds_end": null,
"cds_length": 693,
"cds_start": 413,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001406485.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Met138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393414.1",
"strand": false,
"transcript": "NM_001406485.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1134,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047432979.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Met285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288935.1",
"strand": false,
"transcript": "XM_047432979.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 636,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000557860.1",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "n.544T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000557860.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000560563.2",
"gene_hgnc_id": 143,
"gene_symbol": "ACTC1",
"hgvs_c": "n.1754T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000560563.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
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}