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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: 17-68540888-GGAGCC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68540888&ref=GGAGCC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "FAM20A",
"hgnc_id": 23015,
"hgvs_c": "c.1175_1179delGGCTC",
"hgvs_p": "p.Arg392fs",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_017565.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PRKAR1A",
"hgnc_id": 9388,
"hgvs_c": "c.974-10194_974-10190delAGCCG",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001276290.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Amelogenesis imperfecta type 1G",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": "RL",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4688,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1175,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_017565.4",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.1175_1179delGGCTC",
"hgvs_p": "p.Arg392fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000592554.2",
"protein_coding": true,
"protein_id": "NP_060035.2",
"strand": false,
"transcript": "NM_017565.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": "RL",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4688,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1175,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000592554.2",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.1175_1179delGGCTC",
"hgvs_p": "p.Arg392fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017565.4",
"protein_coding": true,
"protein_id": "ENSP00000468308.1",
"strand": false,
"transcript": "ENST00000592554.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3668,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000226094.9",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "n.853_857delGGCTC",
"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": "ENST00000226094.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": "RL",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1175,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000882126.1",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.1175_1179delGGCTC",
"hgvs_p": "p.Arg392fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552185.1",
"strand": false,
"transcript": "ENST00000882126.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 524,
"aa_ref": "RL",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 1846,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1124,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882123.1",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.1124_1128delGGCTC",
"hgvs_p": "p.Arg375fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552182.1",
"strand": false,
"transcript": "ENST00000882123.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 501,
"aa_ref": "RL",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1055,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882124.1",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.1055_1059delGGCTC",
"hgvs_p": "p.Arg352fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552183.1",
"strand": false,
"transcript": "ENST00000882124.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 476,
"aa_ref": "RL",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1431,
"cds_start": 980,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882125.1",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.980_984delGGCTC",
"hgvs_p": "p.Arg327fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552184.1",
"strand": false,
"transcript": "ENST00000882125.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 403,
"aa_ref": "RL",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4914,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 1212,
"cds_start": 761,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001243746.2",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.761_765delGGCTC",
"hgvs_p": "p.Arg254fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230675.1",
"strand": false,
"transcript": "NM_001243746.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 403,
"aa_ref": "RL",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1212,
"cds_start": 761,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006721959.4",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.761_765delGGCTC",
"hgvs_p": "p.Arg254fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722022.1",
"strand": false,
"transcript": "XM_006721959.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 389,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": null,
"cds_end": null,
"cds_length": 1170,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017024781.3",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.*542_*546delGGCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880270.1",
"strand": false,
"transcript": "XM_017024781.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 371,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": null,
"cds_end": null,
"cds_length": 1116,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011524918.4",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.*664_*668delGGCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523220.1",
"strand": false,
"transcript": "XM_011524918.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 389,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": null,
"cds_end": null,
"cds_length": 1170,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017024781.3",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.*542_*546delGGCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880270.1",
"strand": false,
"transcript": "XM_017024781.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 386,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": null,
"cds_end": null,
"cds_length": 1161,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047436319.1",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.*39_*43delGGCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292275.1",
"strand": false,
"transcript": "XM_047436319.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 371,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": null,
"cds_end": null,
"cds_length": 1116,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011524918.4",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.*664_*668delGGCTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523220.1",
"strand": false,
"transcript": "XM_011524918.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 444,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4404,
"cdna_start": null,
"cds_end": null,
"cds_length": 1335,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913497.1",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.929-927_929-923delGGCTC",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583556.1",
"strand": false,
"transcript": "ENST00000913497.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": null,
"cds_end": null,
"cds_length": 1137,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958307.1",
"gene_hgnc_id": 23015,
"gene_symbol": "FAM20A",
"hgvs_c": "c.813-1497_813-1493delGGCTC",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628366.1",
"strand": false,
"transcript": "ENST00000958307.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001276290.1",
"gene_hgnc_id": 9388,
"gene_symbol": "PRKAR1A",
"hgvs_c": "c.974-10194_974-10190delAGCCG",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263219.1",
"strand": true,
"transcript": "NM_001276290.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1528,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585981.6",
"gene_hgnc_id": 9388,
"gene_symbol": "PRKAR1A",
"hgvs_c": "c.974-10194_974-10190delAGCCG",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467311.2",
"strand": true,
"transcript": "ENST00000585981.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1334,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588188.7",
"gene_hgnc_id": 9388,
"gene_symbol": "PRKAR1A",
"hgvs_c": "c.974-10194_974-10190delAGCCG",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468106.2",
"strand": true,
"transcript": "ENST00000588188.7",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000711037.1",
"gene_hgnc_id": 9388,
"gene_symbol": "PRKAR1A",
"hgvs_c": "c.974-10194_974-10190delAGCCG",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518555.1",
"strand": true,
"transcript": "ENST00000711037.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 389,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": null,
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