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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: 2-101008098-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=101008098&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 101008098,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330348.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3191G>T",
"hgvs_p": "p.Arg1064Leu",
"transcript": "NM_001330348.2",
"protein_id": "NP_001317277.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409318.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330348.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3191G>T",
"hgvs_p": "p.Arg1064Leu",
"transcript": "ENST00000409318.2",
"protein_id": "ENSP00000386856.1",
"transcript_support_level": 5,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330348.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409318.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3146G>T",
"hgvs_p": "p.Arg1049Leu",
"transcript": "ENST00000376840.8",
"protein_id": "ENSP00000366036.4",
"transcript_support_level": 1,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376840.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3200G>T",
"hgvs_p": "p.Arg1067Leu",
"transcript": "ENST00000870702.1",
"protein_id": "ENSP00000540761.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3200,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870702.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3170G>T",
"hgvs_p": "p.Arg1057Leu",
"transcript": "ENST00000870709.1",
"protein_id": "ENSP00000540768.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3170,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870709.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3146G>T",
"hgvs_p": "p.Arg1049Leu",
"transcript": "NM_001102426.3",
"protein_id": "NP_001095896.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102426.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3143G>T",
"hgvs_p": "p.Arg1048Leu",
"transcript": "ENST00000920764.1",
"protein_id": "ENSP00000590823.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920764.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3131G>T",
"hgvs_p": "p.Arg1044Leu",
"transcript": "ENST00000870710.1",
"protein_id": "ENSP00000540769.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3131,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870710.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3086G>T",
"hgvs_p": "p.Arg1029Leu",
"transcript": "ENST00000958232.1",
"protein_id": "ENSP00000628291.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958232.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3059G>T",
"hgvs_p": "p.Arg1020Leu",
"transcript": "ENST00000920765.1",
"protein_id": "ENSP00000590824.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3059,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920765.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3041G>T",
"hgvs_p": "p.Arg1014Leu",
"transcript": "ENST00000870703.1",
"protein_id": "ENSP00000540762.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3041,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870703.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.3035G>T",
"hgvs_p": "p.Arg1012Leu",
"transcript": "ENST00000870706.1",
"protein_id": "ENSP00000540765.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870706.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2924G>T",
"hgvs_p": "p.Arg975Leu",
"transcript": "ENST00000870705.1",
"protein_id": "ENSP00000540764.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870705.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2858G>T",
"hgvs_p": "p.Arg953Leu",
"transcript": "ENST00000870704.1",
"protein_id": "ENSP00000540763.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870704.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2843G>T",
"hgvs_p": "p.Arg948Leu",
"transcript": "ENST00000958229.1",
"protein_id": "ENSP00000628288.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2843,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958229.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2813G>T",
"hgvs_p": "p.Arg938Leu",
"transcript": "ENST00000870707.1",
"protein_id": "ENSP00000540766.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870707.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2780G>T",
"hgvs_p": "p.Arg927Leu",
"transcript": "ENST00000920766.1",
"protein_id": "ENSP00000590825.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920766.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2768G>T",
"hgvs_p": "p.Arg923Leu",
"transcript": "ENST00000958231.1",
"protein_id": "ENSP00000628290.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2768,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958231.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2513G>T",
"hgvs_p": "p.Arg838Leu",
"transcript": "ENST00000958230.1",
"protein_id": "ENSP00000628289.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 929,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958230.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2468G>T",
"hgvs_p": "p.Arg823Leu",
"transcript": "ENST00000870708.1",
"protein_id": "ENSP00000540767.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 914,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870708.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.1871G>T",
"hgvs_p": "p.Arg624Leu",
"transcript": "ENST00000958228.1",
"protein_id": "ENSP00000628287.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 715,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL31",
"gene_hgnc_id": 10334,
"hgvs_c": "c.346+2027C>A",
"hgvs_p": null,
"transcript": "ENST00000409038.5",
"protein_id": "ENSP00000386737.1",
"transcript_support_level": 2,
"aa_start": null,
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{
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}
],
"message": null
}