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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: 16-722768-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=722768&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC78",
"hgnc_id": 14153,
"hgvs_c": "c.1323G>C",
"hgvs_p": "p.Arg441Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001378030.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ANTKMT",
"hgnc_id": 14152,
"hgvs_c": "c.*211C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_023933.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.5209,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01899999938905239,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1323,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001378030.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1323G>C",
"hgvs_p": "p.Arg441Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345165.10",
"protein_coding": true,
"protein_id": "NP_001364959.1",
"strand": false,
"transcript": "NM_001378030.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1323,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000345165.10",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1323G>C",
"hgvs_p": "p.Arg441Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378030.1",
"protein_coding": true,
"protein_id": "ENSP00000316851.5",
"strand": false,
"transcript": "ENST00000345165.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 438,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": null,
"cds_end": null,
"cds_length": 1317,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000293889.10",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.*2G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000293889.6",
"strand": false,
"transcript": "ENST00000293889.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 482,
"aa_ref": "R",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1359,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000947033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1359G>C",
"hgvs_p": "p.Arg453Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617092.1",
"strand": false,
"transcript": "ENST00000947033.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1353,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000947032.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1353G>C",
"hgvs_p": "p.Arg451Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617091.1",
"strand": false,
"transcript": "ENST00000947032.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1299,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1299G>C",
"hgvs_p": "p.Arg433Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523092.1",
"strand": false,
"transcript": "ENST00000853033.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 459,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1290,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853031.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1290G>C",
"hgvs_p": "p.Arg430Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523090.1",
"strand": false,
"transcript": "ENST00000853031.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1248,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853036.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1248G>C",
"hgvs_p": "p.Arg416Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523095.1",
"strand": false,
"transcript": "ENST00000853036.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 428,
"aa_ref": "R",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1464,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1197,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853035.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Arg399Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523094.1",
"strand": false,
"transcript": "ENST00000853035.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1155,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853032.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1155G>C",
"hgvs_p": "p.Arg385Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523091.1",
"strand": false,
"transcript": "ENST00000853032.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1143,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378031.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1143G>C",
"hgvs_p": "p.Arg381Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364960.1",
"strand": false,
"transcript": "NM_001378031.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1143,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000853034.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1143G>C",
"hgvs_p": "p.Arg381Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523093.1",
"strand": false,
"transcript": "ENST00000853034.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 281,
"aa_ref": "R",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1259,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 846,
"cds_start": 756,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001378033.1",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.756G>C",
"hgvs_p": "p.Arg252Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364962.1",
"strand": false,
"transcript": "NM_001378033.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 643,
"aa_ref": "R",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1842,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011522356.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1842G>C",
"hgvs_p": "p.Arg614Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520658.1",
"strand": false,
"transcript": "XM_011522356.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 639,
"aa_ref": "R",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1830,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011522357.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1830G>C",
"hgvs_p": "p.Arg610Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520659.1",
"strand": false,
"transcript": "XM_011522357.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 635,
"aa_ref": "R",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1818,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011522358.3",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1818G>C",
"hgvs_p": "p.Arg606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520660.1",
"strand": false,
"transcript": "XM_011522358.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1809,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011522359.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1809G>C",
"hgvs_p": "p.Arg603Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520661.1",
"strand": false,
"transcript": "XM_011522359.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 628,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1797,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011522360.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1797G>C",
"hgvs_p": "p.Arg599Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520662.1",
"strand": false,
"transcript": "XM_011522360.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 1846,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1770,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011522361.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1770G>C",
"hgvs_p": "p.Arg590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520663.1",
"strand": false,
"transcript": "XM_011522361.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1746,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017022929.2",
"gene_hgnc_id": 14153,
"gene_symbol": "CCDC78",
"hgvs_c": "c.1746G>C",
"hgvs_p": "p.Arg582Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878418.1",
"strand": false,
"transcript": "XM_017022929.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1629,
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