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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: 2-237542657-CCG-TTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237542657&ref=CCG&alt=TTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "MLPH",
"hgnc_id": 29643,
"hgvs_c": "c.1537_1539delCCGinsTTA",
"hgvs_p": "p.Pro513Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_024101.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 600,
"aa_ref": "KS",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1526,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000264605.8",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1526_1528delCCGinsTTA",
"hgvs_p": "p.LysSer509IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024101.7",
"protein_coding": true,
"protein_id": "ENSP00000264605.3",
"strand": true,
"transcript": "ENST00000264605.8",
"transcript_support_level": 1
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 572,
"aa_ref": "KS",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1442,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000338530.8",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1442_1444delCCGinsTTA",
"hgvs_p": "p.LysSer481IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341845.4",
"strand": true,
"transcript": "ENST00000338530.8",
"transcript_support_level": 1
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 480,
"aa_ref": "KS",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409373.5",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1166_1168delCCGinsTTA",
"hgvs_p": "p.LysSer389IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386780.1",
"strand": true,
"transcript": "ENST00000409373.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 600,
"aa_ref": "P",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 1748,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1537,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024101.7",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1537_1539delCCGinsTTA",
"hgvs_p": "p.Pro513Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264605.8",
"protein_coding": true,
"protein_id": "NP_077006.1",
"strand": true,
"transcript": "NM_024101.7",
"transcript_support_level": null
},
{
"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": 2183,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000464123.5",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "n.1507_1509delCCGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000464123.5",
"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": 1979,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000468178.5",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "n.1653_1655delCCGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000468178.5",
"transcript_support_level": 1
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 644,
"aa_ref": "KS",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1782,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1658,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951150.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1658_1660delCCGinsTTA",
"hgvs_p": "p.LysSer553IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621209.1",
"strand": true,
"transcript": "ENST00000951150.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 616,
"aa_ref": "KS",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872932.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1574_1576delCCGinsTTA",
"hgvs_p": "p.LysSer525IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542991.1",
"strand": true,
"transcript": "ENST00000872932.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 616,
"aa_ref": "KS",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 1767,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951143.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1574_1576delCCGinsTTA",
"hgvs_p": "p.LysSer525IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621202.1",
"strand": true,
"transcript": "ENST00000951143.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 614,
"aa_ref": "KS",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951136.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1568_1570delCCGinsTTA",
"hgvs_p": "p.LysSer523IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621195.1",
"strand": true,
"transcript": "ENST00000951136.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 600,
"aa_ref": "KS",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1526,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872925.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1526_1528delCCGinsTTA",
"hgvs_p": "p.LysSer509IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542984.1",
"strand": true,
"transcript": "ENST00000872925.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 600,
"aa_ref": "KS",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1925,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1526,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951133.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1526_1528delCCGinsTTA",
"hgvs_p": "p.LysSer509IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621192.1",
"strand": true,
"transcript": "ENST00000951133.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 588,
"aa_ref": "KS",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2380,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 1767,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872934.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1490_1492delCCGinsTTA",
"hgvs_p": "p.LysSer497IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542993.1",
"strand": true,
"transcript": "ENST00000872934.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 588,
"aa_ref": "KS",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 1767,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951132.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1490_1492delCCGinsTTA",
"hgvs_p": "p.LysSer497IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621191.1",
"strand": true,
"transcript": "ENST00000951132.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 586,
"aa_ref": "KS",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872935.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1484_1486delCCGinsTTA",
"hgvs_p": "p.LysSer495IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542994.1",
"strand": true,
"transcript": "ENST00000872935.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 581,
"aa_ref": "KS",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1469,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951149.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1469_1471delCCGinsTTA",
"hgvs_p": "p.LysSer490IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621208.1",
"strand": true,
"transcript": "ENST00000951149.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 576,
"aa_ref": "KS",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951140.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1454_1456delCCGinsTTA",
"hgvs_p": "p.LysSer485IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621199.1",
"strand": true,
"transcript": "ENST00000951140.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 576,
"aa_ref": "KS",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951148.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1454_1456delCCGinsTTA",
"hgvs_p": "p.LysSer485IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621207.1",
"strand": true,
"transcript": "ENST00000951148.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 572,
"aa_ref": "KS",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1442,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872928.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1442_1444delCCGinsTTA",
"hgvs_p": "p.LysSer481IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542987.1",
"strand": true,
"transcript": "ENST00000872928.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 572,
"aa_ref": "KS",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1442,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872930.1",
"gene_hgnc_id": 29643,
"gene_symbol": "MLPH",
"hgvs_c": "c.1442_1444delCCGinsTTA",
"hgvs_p": "p.LysSer481IleThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542989.1",
"strand": true,
"transcript": "ENST00000872930.1",
"transcript_support_level": null
},
{
"aa_alt": "IT",
"aa_end": null,
"aa_length": 572,
"aa_ref": "KS",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 1719,
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