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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: 9-127815951-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127815951&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127815951,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000373203.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"transcript": "NM_001114753.3",
"protein_id": "NP_001108225.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 658,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": "ENST00000373203.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"transcript": "ENST00000373203.9",
"protein_id": "ENSP00000362299.4",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 658,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": "NM_001114753.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"transcript": "ENST00000344849.5",
"protein_id": "ENSP00000341917.3",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 625,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"transcript": "ENST00000714047.1",
"protein_id": "ENSP00000519338.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 698,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"transcript": "ENST00000713997.1",
"protein_id": "ENSP00000519287.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 667,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1859C>T",
"hgvs_p": "p.Ser620Leu",
"transcript": "ENST00000714082.1",
"protein_id": "ENSP00000519373.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 663,
"cds_start": 1859,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Ser607Leu",
"transcript": "ENST00000714046.1",
"protein_id": "ENSP00000519337.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 650,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"transcript": "ENST00000714077.1",
"protein_id": "ENSP00000519368.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 634,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"transcript": "ENST00000714084.1",
"protein_id": "ENSP00000519375.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 632,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"transcript": "NM_000118.4",
"protein_id": "NP_000109.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 625,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Ser576Leu",
"transcript": "ENST00000714102.1",
"protein_id": "ENSP00000519394.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 619,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1493C>T",
"hgvs_p": "p.Ser498Leu",
"transcript": "ENST00000713957.1",
"protein_id": "ENSP00000519250.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 541,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "NM_001278138.2",
"protein_id": "NP_001265067.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 476,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "ENST00000480266.7",
"protein_id": "ENSP00000479015.1",
"transcript_support_level": 2,
"aa_start": 433,
"aa_end": null,
"aa_length": 476,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ser433Leu",
"transcript": "ENST00000713956.1",
"protein_id": "ENSP00000519249.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 476,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Ser352Leu",
"transcript": "ENST00000714078.1",
"protein_id": "ENSP00000519369.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 395,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ser347Leu",
"transcript": "ENST00000713995.1",
"protein_id": "ENSP00000519285.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 390,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ser347Leu",
"transcript": "ENST00000714079.1",
"protein_id": "ENSP00000519370.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 390,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ser347Leu",
"transcript": "ENST00000714126.1",
"protein_id": "ENSP00000519416.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 357,
"cds_start": 1040,
"cds_end": null,
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"cdna_start": 1244,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ser347Leu",
"transcript": "ENST00000714127.1",
"protein_id": "ENSP00000519417.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 357,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ser261Leu",
"transcript": "ENST00000714080.1",
"protein_id": "ENSP00000519371.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 304,
"cds_start": 782,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1033,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "n.*1401C>T",
"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,
"cdna_length": 3149,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "n.*769C>T",
"hgvs_p": null,
"transcript": "ENST00000713996.1",
"protein_id": "ENSP00000519286.1",
"transcript_support_level": null,
"aa_start": null,
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],
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"computational_score_selected": 0.022194504737854004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
"alphamissense_score": 0.0707,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.104,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1,BP5,BS3_Supporting",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BS1",
"BP5",
"BS3_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000373203.9",
"gene_symbol": "ENG",
"hgnc_id": 3349,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000439298.5",
"gene_symbol": "ENSG00000225032",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-115G>A",
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},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_136302.1",
"gene_symbol": "LOC102723566",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-115G>A",
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}
],
"clinvar_disease": " hereditary hemorrhagic, type 1,Cardiovascular phenotype,Haemorrhagic telangiectasia 1,Hereditary hemorrhagic telangiectasia,Telangiectasia,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:8 B:4",
"phenotype_combined": "Haemorrhagic telangiectasia 1|not specified|Telangiectasia, hereditary hemorrhagic, type 1|not provided|Hereditary hemorrhagic telangiectasia|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}