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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: 10-70775251-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70775251&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 70775251,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001318241.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Arg238Pro",
"transcript": "NM_001318241.2",
"protein_id": "NP_001305170.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 352,
"cds_start": 713,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000456372.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318241.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Arg238Pro",
"transcript": "ENST00000456372.4",
"protein_id": "ENSP00000400224.3",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 352,
"cds_start": 713,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318241.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456372.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"transcript": "ENST00000299290.5",
"protein_id": "ENSP00000299290.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 351,
"cds_start": 710,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299290.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"transcript": "ENST00000692183.1",
"protein_id": "ENSP00000509602.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 351,
"cds_start": 710,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692183.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"transcript": "NM_001318242.2",
"protein_id": "NP_001305171.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 351,
"cds_start": 710,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318242.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.710G>C",
"hgvs_p": "p.Arg237Pro",
"transcript": "NM_152710.4",
"protein_id": "NP_689923.3",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 351,
"cds_start": 710,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152710.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Pro",
"transcript": "NM_001318243.2",
"protein_id": "NP_001305172.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 350,
"cds_start": 707,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318243.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Pro",
"transcript": "ENST00000689622.1",
"protein_id": "ENSP00000509608.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 350,
"cds_start": 707,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689622.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015845.2",
"protein_id": "XP_016871334.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 446,
"cds_start": 806,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015845.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015846.2",
"protein_id": "XP_016871335.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 443,
"cds_start": 806,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015846.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015847.2",
"protein_id": "XP_016871336.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 437,
"cds_start": 806,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015847.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015848.2",
"protein_id": "XP_016871337.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 434,
"cds_start": 806,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015848.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015849.2",
"protein_id": "XP_016871338.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 418,
"cds_start": 806,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015849.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1210G>C",
"hgvs_p": "p.Gly404Arg",
"transcript": "XM_017015850.2",
"protein_id": "XP_016871339.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 410,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015850.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Gly403Arg",
"transcript": "XM_017015851.2",
"protein_id": "XP_016871340.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 409,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015851.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015852.2",
"protein_id": "XP_016871341.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 400,
"cds_start": 806,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015852.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015853.2",
"protein_id": "XP_016871342.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 383,
"cds_start": 806,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015853.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015854.2",
"protein_id": "XP_016871343.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 382,
"cds_start": 806,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015854.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015855.2",
"protein_id": "XP_016871344.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 382,
"cds_start": 806,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015855.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015856.2",
"protein_id": "XP_016871345.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 372,
"cds_start": 806,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015856.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_017015857.2",
"protein_id": "XP_016871346.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 360,
"cds_start": 806,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015857.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBATA",
"gene_hgnc_id": 23511,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "XM_047424721.1",
"protein_id": "XP_047280677.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 341,
"cds_start": 806,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424721.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
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}
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}