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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: 17-41820412-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41820412&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41820412,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_021939.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "NM_021939.4",
"protein_id": "NP_068758.3",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 582,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321562.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021939.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000321562.9",
"protein_id": "ENSP00000317232.4",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 582,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021939.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321562.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Arg464*",
"transcript": "ENST00000914601.1",
"protein_id": "ENSP00000584660.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 689,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914601.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Arg464*",
"transcript": "ENST00000864398.1",
"protein_id": "ENSP00000534457.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 662,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864398.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000864399.1",
"protein_id": "ENSP00000534458.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 647,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864399.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000864401.1",
"protein_id": "ENSP00000534460.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 628,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864401.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Arg445*",
"transcript": "ENST00000864400.1",
"protein_id": "ENSP00000534459.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 624,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864400.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441*",
"transcript": "ENST00000914596.1",
"protein_id": "ENSP00000584655.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 620,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914596.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000864393.1",
"protein_id": "ENSP00000534452.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 601,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864393.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Arg401*",
"transcript": "ENST00000864392.1",
"protein_id": "ENSP00000534451.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 580,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864392.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Arg401*",
"transcript": "ENST00000864397.1",
"protein_id": "ENSP00000534456.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 580,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864397.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000864394.1",
"protein_id": "ENSP00000534453.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 562,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864394.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329*",
"transcript": "ENST00000914595.1",
"protein_id": "ENSP00000584654.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 508,
"cds_start": 985,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914595.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "ENST00000914605.1",
"protein_id": "ENSP00000584664.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 497,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914605.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316*",
"transcript": "ENST00000914594.1",
"protein_id": "ENSP00000584653.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 495,
"cds_start": 946,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914594.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291*",
"transcript": "ENST00000914603.1",
"protein_id": "ENSP00000584662.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 489,
"cds_start": 871,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914603.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291*",
"transcript": "ENST00000706683.1",
"protein_id": "ENSP00000516497.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 470,
"cds_start": 871,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706683.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206*",
"transcript": "ENST00000455106.1",
"protein_id": "ENSP00000416822.1",
"transcript_support_level": 2,
"aa_start": 206,
"aa_end": null,
"aa_length": 385,
"cds_start": 616,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455106.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157*",
"transcript": "ENST00000914600.1",
"protein_id": "ENSP00000584659.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 382,
"cds_start": 469,
"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": "ENST00000914600.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Arg179*",
"transcript": "ENST00000864396.1",
"protein_id": "ENSP00000534455.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 358,
"cds_start": 535,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864396.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403*",
"transcript": "XM_011525099.4",
"protein_id": "XP_011523401.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 601,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525099.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Arg312*",
"transcript": "XM_011525100.3",
"protein_id": "XP_011523402.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 510,
"cds_start": 934,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525100.3"
},
{
"aa_ref": "R",
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Osteogenesis imperfecta type 12",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}