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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: 9-127818727-TCT-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127818727&ref=TCT&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127818727,
"ref": "TCT",
"alt": "AC",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_001114753.3",
"consequences": [
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1415_1417delAGAinsGT",
"hgvs_p": "p.Gln472fs",
"transcript": "NM_001114753.3",
"protein_id": "NP_001108225.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 658,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": "ENST00000373203.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1415_1417delAGAinsGT",
"hgvs_p": "p.Gln472fs",
"transcript": "ENST00000373203.9",
"protein_id": "ENSP00000362299.4",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 658,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": "NM_001114753.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1415_1417delAGAinsGT",
"hgvs_p": "p.Gln472fs",
"transcript": "ENST00000344849.5",
"protein_id": "ENSP00000341917.3",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 625,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1415_1417delAGAinsGT",
"hgvs_p": "p.Gln472fs",
"transcript": "ENST00000714047.1",
"protein_id": "ENSP00000519338.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 698,
"cds_start": 1415,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1415_1417delAGAinsGT",
"hgvs_p": "p.Gln472fs",
"transcript": "ENST00000713997.1",
"protein_id": "ENSP00000519287.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 667,
"cds_start": 1415,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1415_1417delAGAinsGT",
"hgvs_p": "p.Gln472fs",
"transcript": "ENST00000714082.1",
"protein_id": "ENSP00000519373.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 663,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1391_1393delAGAinsGT",
"hgvs_p": "p.Gln464fs",
"transcript": "ENST00000714046.1",
"protein_id": "ENSP00000519337.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 650,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1415_1417delAGAinsGT",
"hgvs_p": "p.Gln472fs",
"transcript": "ENST00000714077.1",
"protein_id": "ENSP00000519368.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 634,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1415_1417delAGAinsGT",
"hgvs_p": "p.Gln472fs",
"transcript": "ENST00000714084.1",
"protein_id": "ENSP00000519375.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 632,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1415_1417delAGAinsGT",
"hgvs_p": "p.Gln472fs",
"transcript": "NM_000118.4",
"protein_id": "NP_000109.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 625,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1415_1417delAGAinsGT",
"hgvs_p": "p.Gln472fs",
"transcript": "ENST00000714076.1",
"protein_id": "ENSP00000519367.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 597,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1064_1066delAGAinsGT",
"hgvs_p": "p.Gln355fs",
"transcript": "ENST00000713957.1",
"protein_id": "ENSP00000519250.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 541,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.869_871delAGAinsGT",
"hgvs_p": "p.Gln290fs",
"transcript": "NM_001278138.2",
"protein_id": "NP_001265067.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 476,
"cds_start": 869,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.869_871delAGAinsGT",
"hgvs_p": "p.Gln290fs",
"transcript": "ENST00000480266.7",
"protein_id": "ENSP00000479015.1",
"transcript_support_level": 2,
"aa_start": 290,
"aa_end": null,
"aa_length": 476,
"cds_start": 869,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.869_871delAGAinsGT",
"hgvs_p": "p.Gln290fs",
"transcript": "ENST00000713956.1",
"protein_id": "ENSP00000519249.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 476,
"cds_start": 869,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.611_613delAGAinsGT",
"hgvs_p": "p.Gln204fs",
"transcript": "ENST00000714078.1",
"protein_id": "ENSP00000519369.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 395,
"cds_start": 611,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.611_613delAGAinsGT",
"hgvs_p": "p.Gln204fs",
"transcript": "ENST00000713995.1",
"protein_id": "ENSP00000519285.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 390,
"cds_start": 611,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.611_613delAGAinsGT",
"hgvs_p": "p.Gln204fs",
"transcript": "ENST00000714079.1",
"protein_id": "ENSP00000519370.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 390,
"cds_start": 611,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.611_613delAGAinsGT",
"hgvs_p": "p.Gln204fs",
"transcript": "ENST00000714126.1",
"protein_id": "ENSP00000519416.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 357,
"cds_start": 611,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.611_613delAGAinsGT",
"hgvs_p": "p.Gln204fs",
"transcript": "ENST00000714127.1",
"protein_id": "ENSP00000519417.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 357,
"cds_start": 611,
"cds_end": null,
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"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QS",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.611_613delAGAinsGT",
"hgvs_p": "p.Gln204fs",
"transcript": "ENST00000714080.1",
"protein_id": "ENSP00000519371.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 304,
"cds_start": 611,
"cds_end": null,
"cds_length": 915,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 1832,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "n.*972_*974delAGAinsGT",
"hgvs_p": null,
"transcript": "ENST00000462196.2",
"protein_id": "ENSP00000519251.1",
"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,
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],
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{
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"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
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"effects": [
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"missense_variant"
],
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},
{
"score": 4,
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"PP5_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 4,
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"PP5_Moderate"
],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "Hereditary hemorrhagic telangiectasia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Hereditary hemorrhagic telangiectasia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}