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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: 7-151077116-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151077116&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151077116,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006712.5",
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1412G>C",
"hgvs_p": "p.Arg471Pro",
"transcript": "NM_006712.5",
"protein_id": "NP_006703.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 549,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297532.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006712.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1412G>C",
"hgvs_p": "p.Arg471Pro",
"transcript": "ENST00000297532.11",
"protein_id": "ENSP00000297532.6",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 549,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006712.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297532.11"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1331G>C",
"hgvs_p": "p.Arg444Pro",
"transcript": "ENST00000482571.2",
"protein_id": "ENSP00000418516.1",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 522,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482571.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.989G>C",
"hgvs_p": "p.Arg330Pro",
"transcript": "ENST00000353841.6",
"protein_id": "ENSP00000324817.6",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 408,
"cds_start": 989,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353841.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.2601G>C",
"hgvs_p": null,
"transcript": "ENST00000467237.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467237.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.1412G>C",
"hgvs_p": null,
"transcript": "ENST00000489884.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489884.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1505G>C",
"hgvs_p": "p.Arg502Pro",
"transcript": "ENST00000899746.1",
"protein_id": "ENSP00000569805.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 580,
"cds_start": 1505,
"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": "ENST00000899746.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1436G>C",
"hgvs_p": "p.Arg479Pro",
"transcript": "ENST00000899741.1",
"protein_id": "ENSP00000569800.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 557,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899741.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1418G>C",
"hgvs_p": "p.Arg473Pro",
"transcript": "ENST00000899743.1",
"protein_id": "ENSP00000569802.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 551,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899743.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000899744.1",
"protein_id": "ENSP00000569803.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 547,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899744.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1355G>C",
"hgvs_p": "p.Arg452Pro",
"transcript": "ENST00000899750.1",
"protein_id": "ENSP00000569809.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 530,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899750.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1331G>C",
"hgvs_p": "p.Arg444Pro",
"transcript": "NM_001258461.2",
"protein_id": "NP_001245390.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 522,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258461.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1277G>C",
"hgvs_p": "p.Arg426Pro",
"transcript": "ENST00000914251.1",
"protein_id": "ENSP00000584310.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 504,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914251.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Pro",
"transcript": "ENST00000899751.1",
"protein_id": "ENSP00000569810.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 489,
"cds_start": 1232,
"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": "ENST00000899751.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1226G>C",
"hgvs_p": "p.Arg409Pro",
"transcript": "ENST00000959430.1",
"protein_id": "ENSP00000629489.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 487,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959430.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1223G>C",
"hgvs_p": "p.Arg408Pro",
"transcript": "ENST00000899749.1",
"protein_id": "ENSP00000569808.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 486,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899749.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1082G>C",
"hgvs_p": "p.Arg361Pro",
"transcript": "ENST00000959429.1",
"protein_id": "ENSP00000629488.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 439,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959429.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Arg332Pro",
"transcript": "ENST00000899745.1",
"protein_id": "ENSP00000569804.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 410,
"cds_start": 995,
"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": "ENST00000899745.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.989G>C",
"hgvs_p": "p.Arg330Pro",
"transcript": "NM_033015.4",
"protein_id": "NP_148936.2",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 408,
"cds_start": 989,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033015.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Arg328Pro",
"transcript": "ENST00000899748.1",
"protein_id": "ENSP00000569807.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 406,
"cds_start": 983,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899748.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.908G>C",
"hgvs_p": "p.Arg303Pro",
"transcript": "ENST00000899742.1",
"protein_id": "ENSP00000569801.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 381,
"cds_start": 908,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899742.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1310G>C",
"hgvs_p": "p.Arg437Pro",
"transcript": "XM_005249932.2",
"protein_id": "XP_005249989.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 515,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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}