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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: 16-89554502-T-CCAAGTCTGTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89554502&ref=T&alt=CCAAGTCTGTA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89554502,
"ref": "T",
"alt": "CCAAGTCTGTA",
"effect": "frameshift_variant,missense_variant",
"transcript": "ENST00000645818.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2120delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val707fs",
"transcript": "NM_003119.4",
"protein_id": "NP_003110.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 795,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "ENST00000645818.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2120delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val707fs",
"transcript": "ENST00000645818.2",
"protein_id": "ENSP00000495795.2",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 795,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "NM_003119.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2099delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val700fs",
"transcript": "ENST00000268704.7",
"protein_id": "ENSP00000268704.3",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 788,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2120delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val707fs",
"transcript": "NM_001363850.1",
"protein_id": "NP_001350779.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 809,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2120delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val707fs",
"transcript": "ENST00000645063.1",
"protein_id": "ENSP00000493590.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 809,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2075delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val692fs",
"transcript": "ENST00000644781.1",
"protein_id": "ENSP00000495473.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 780,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.2009delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val670fs",
"transcript": "ENST00000643649.1",
"protein_id": "ENSP00000494806.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 758,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1988delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val663fs",
"transcript": "ENST00000646303.1",
"protein_id": "ENSP00000494160.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 751,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1775delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val592fs",
"transcript": "ENST00000644671.1",
"protein_id": "ENSP00000495999.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 680,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1712delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val571fs",
"transcript": "ENST00000647079.1",
"protein_id": "ENSP00000495967.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 659,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1658delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val553fs",
"transcript": "ENST00000645897.1",
"protein_id": "ENSP00000495293.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 641,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1172delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val391fs",
"transcript": "ENST00000646716.1",
"protein_id": "ENSP00000495593.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 493,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.977delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val326fs",
"transcript": "ENST00000646445.1",
"protein_id": "ENSP00000496434.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 414,
"cds_start": 977,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.17delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val6fs",
"transcript": "ENST00000565891.2",
"protein_id": "ENSP00000495004.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 81,
"cds_start": 17,
"cds_end": null,
"cds_length": 246,
"cdna_start": 17,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1247delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val416fs",
"transcript": "XM_047434537.1",
"protein_id": "XP_047290493.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 518,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "AKSV?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.806delTinsCCAAGTCTGTA",
"hgvs_p": "p.Val269fs",
"transcript": "XM_047434540.1",
"protein_id": "XP_047290496.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 357,
"cds_start": 806,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GQVC?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1749delTinsCCAAGTCTGTA",
"hgvs_p": "p.Gly584fs",
"transcript": "ENST00000647032.1",
"protein_id": "ENSP00000496047.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 616,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.2792delTinsCCAAGTCTGTA",
"hgvs_p": null,
"transcript": "ENST00000561702.6",
"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": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.*87delTinsCCAAGTCTGTA",
"hgvs_p": null,
"transcript": "ENST00000561911.5",
"protein_id": "ENSP00000457387.1",
"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": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.*87delTinsCCAAGTCTGTA",
"hgvs_p": null,
"transcript": "ENST00000566682.2",
"protein_id": "ENSP00000461979.2",
"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": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.803delTinsCCAAGTCTGTA",
"hgvs_p": null,
"transcript": "ENST00000569720.2",
"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": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.*2181delTinsCCAAGTCTGTA",
"hgvs_p": null,
"transcript": "ENST00000569820.6",
"protein_id": "ENSP00000454805.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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}
],
"message": null
}