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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: 16-89544765-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89544765&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89544765,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000645818.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Thr481Arg",
"transcript": "NM_003119.4",
"protein_id": "NP_003110.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 795,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "ENST00000645818.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Thr481Arg",
"transcript": "ENST00000645818.2",
"protein_id": "ENSP00000495795.2",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 795,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "NM_003119.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1421C>G",
"hgvs_p": "p.Thr474Arg",
"transcript": "ENST00000268704.7",
"protein_id": "ENSP00000268704.3",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 788,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Thr481Arg",
"transcript": "NM_001363850.1",
"protein_id": "NP_001350779.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 809,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Thr481Arg",
"transcript": "ENST00000645063.1",
"protein_id": "ENSP00000493590.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 809,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 3266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Thr481Arg",
"transcript": "ENST00000644781.1",
"protein_id": "ENSP00000495473.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 780,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Thr481Arg",
"transcript": "ENST00000643649.1",
"protein_id": "ENSP00000494806.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 758,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1310C>G",
"hgvs_p": "p.Thr437Arg",
"transcript": "ENST00000646303.1",
"protein_id": "ENSP00000494160.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 751,
"cds_start": 1310,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1097C>G",
"hgvs_p": "p.Thr366Arg",
"transcript": "ENST00000644671.1",
"protein_id": "ENSP00000495999.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 680,
"cds_start": 1097,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1034C>G",
"hgvs_p": "p.Thr345Arg",
"transcript": "ENST00000647079.1",
"protein_id": "ENSP00000495967.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 659,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Thr352Arg",
"transcript": "ENST00000647032.1",
"protein_id": "ENSP00000496047.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 616,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.494C>G",
"hgvs_p": "p.Thr165Arg",
"transcript": "ENST00000646716.1",
"protein_id": "ENSP00000495593.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 493,
"cds_start": 494,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.299C>G",
"hgvs_p": "p.Thr100Arg",
"transcript": "ENST00000646445.1",
"protein_id": "ENSP00000496434.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 414,
"cds_start": 299,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Thr481Arg",
"transcript": "XM_017023598.2",
"protein_id": "XP_016879087.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 561,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.569C>G",
"hgvs_p": "p.Thr190Arg",
"transcript": "XM_047434537.1",
"protein_id": "XP_047290493.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 518,
"cds_start": 569,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.1442C>G",
"hgvs_p": "p.Thr481Arg",
"transcript": "XM_047434538.1",
"protein_id": "XP_047290494.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 511,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.128C>G",
"hgvs_p": "p.Thr43Arg",
"transcript": "XM_047434540.1",
"protein_id": "XP_047290496.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 357,
"cds_start": 128,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 2142,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.587C>G",
"hgvs_p": null,
"transcript": "ENST00000561945.2",
"protein_id": null,
"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": 803,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.38C>G",
"hgvs_p": null,
"transcript": "ENST00000566221.5",
"protein_id": "ENSP00000457298.1",
"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": 734,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.455C>G",
"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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.116C>G",
"hgvs_p": null,
"transcript": "ENST00000569820.6",
"protein_id": "ENSP00000454805.1",
"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": 3313,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.1076C>G",
"hgvs_p": null,
"transcript": "ENST00000642226.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3110,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.193C>G",
"hgvs_p": null,
"transcript": "ENST00000642263.1",
"protein_id": null,
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}