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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: 7-2540996-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2540996&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2540996,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000340611.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "NM_152743.4",
"protein_id": "NP_689956.2",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 821,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "ENST00000340611.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "ENST00000340611.9",
"protein_id": "ENSP00000339637.4",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 821,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "NM_152743.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "NM_001350626.2",
"protein_id": "NP_001337555.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 881,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Pro285Ser",
"transcript": "NM_001350627.2",
"protein_id": "NP_001337556.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 646,
"cds_start": 853,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "XM_011515177.3",
"protein_id": "XP_011513479.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 909,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "XM_011515178.2",
"protein_id": "XP_011513480.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 909,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Pro459Ser",
"transcript": "XM_011515179.3",
"protein_id": "XP_011513481.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 908,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Pro459Ser",
"transcript": "XM_047420028.1",
"protein_id": "XP_047275984.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 880,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "XM_011515181.3",
"protein_id": "XP_011513483.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 849,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Pro459Ser",
"transcript": "XM_017011834.2",
"protein_id": "XP_016867323.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 820,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Pro285Ser",
"transcript": "XM_011515184.4",
"protein_id": "XP_011513486.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 734,
"cds_start": 853,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Pro285Ser",
"transcript": "XM_047420030.1",
"protein_id": "XP_047275986.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 734,
"cds_start": 853,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Pro285Ser",
"transcript": "XM_047420031.1",
"protein_id": "XP_047275987.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 646,
"cds_start": 853,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "XM_011515186.3",
"protein_id": "XP_011513488.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 587,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Pro459Ser",
"transcript": "XM_047420032.1",
"protein_id": "XP_047275988.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 586,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "XM_017011836.3",
"protein_id": "XP_016867325.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 559,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Pro459Ser",
"transcript": "XM_047420033.1",
"protein_id": "XP_047275989.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 558,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "XM_047420034.1",
"protein_id": "XP_047275990.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 529,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "XM_047420035.1",
"protein_id": "XP_047275991.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 514,
"cds_start": 1378,
"cds_end": null,
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"cdna_start": 1432,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser",
"transcript": "XM_047420036.1",
"protein_id": "XP_047275992.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 494,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 1670,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.1660C>T",
"hgvs_p": null,
"transcript": "ENST00000467558.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 4440,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.2860C>T",
"hgvs_p": null,
"transcript": "ENST00000469750.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 5226,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.29C>T",
"hgvs_p": null,
"transcript": "ENST00000473879.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
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"transcript": "ENST00000493232.5",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "BRAT1",
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"hgvs_c": "n.1437C>T",
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"transcript": "NR_146879.2",
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"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
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"hgvs_c": "c.-175C>T",
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"transcript": "XM_024446682.2",
"protein_id": "XP_024302450.1",
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"aa_end": null,
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"cds_start": -4,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1618,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"dbsnp": "rs373935601",
"frequency_reference_population": 0.000031549396,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000306932,
"gnomad_genomes_af": 0.0000394332,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6765041351318359,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.248,
"revel_prediction": "Benign",
"alphamissense_score": 0.1395,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.374,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000340611.9",
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Pro460Ser"
}
],
"clinvar_disease": "Inborn genetic diseases,Neonatal-onset encephalopathy with rigidity and seizures",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Neonatal-onset encephalopathy with rigidity and seizures|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}