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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: 1-161518015-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161518015&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161518015,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001136219.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.821T>C",
"hgvs_p": "p.Leu274Pro",
"transcript": "NM_001136219.3",
"protein_id": "NP_001129691.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 317,
"cds_start": 821,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000271450.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136219.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.821T>C",
"hgvs_p": "p.Leu274Pro",
"transcript": "ENST00000271450.12",
"protein_id": "ENSP00000271450.6",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 317,
"cds_start": 821,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136219.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271450.12"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.818T>C",
"hgvs_p": "p.Leu273Pro",
"transcript": "ENST00000367972.8",
"protein_id": "ENSP00000356949.4",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 316,
"cds_start": 818,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367972.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.878T>C",
"hgvs_p": "p.Leu293Pro",
"transcript": "ENST00000967690.1",
"protein_id": "ENSP00000637749.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 336,
"cds_start": 878,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967690.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.818T>C",
"hgvs_p": "p.Leu273Pro",
"transcript": "NM_021642.5",
"protein_id": "NP_067674.2",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 316,
"cds_start": 818,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021642.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Leu233Pro",
"transcript": "NM_001375296.1",
"protein_id": "NP_001362225.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 276,
"cds_start": 698,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375296.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Leu233Pro",
"transcript": "ENST00000699277.1",
"protein_id": "ENSP00000514258.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 276,
"cds_start": 698,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699277.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Leu232Pro",
"transcript": "NM_001375297.1",
"protein_id": "NP_001362226.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 275,
"cds_start": 695,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375297.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Leu188Pro",
"transcript": "ENST00000699278.1",
"protein_id": "ENSP00000514259.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 231,
"cds_start": 563,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699278.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Leu135Pro",
"transcript": "ENST00000699279.1",
"protein_id": "ENSP00000514260.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 178,
"cds_start": 404,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699279.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.74T>C",
"hgvs_p": "p.Leu25Pro",
"transcript": "ENST00000459885.1",
"protein_id": "ENSP00000476411.1",
"transcript_support_level": 3,
"aa_start": 25,
"aa_end": null,
"aa_length": 84,
"cds_start": 74,
"cds_end": null,
"cds_length": 257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000459885.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.821T>C",
"hgvs_p": "p.Leu274Pro",
"transcript": "XM_047449441.1",
"protein_id": "XP_047305397.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 369,
"cds_start": 821,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449441.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.818T>C",
"hgvs_p": "p.Leu273Pro",
"transcript": "XM_017000663.3",
"protein_id": "XP_016856152.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 368,
"cds_start": 818,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000663.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.821T>C",
"hgvs_p": "p.Leu274Pro",
"transcript": "XM_017000664.2",
"protein_id": "XP_016856153.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 353,
"cds_start": 821,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000664.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.821T>C",
"hgvs_p": "p.Leu274Pro",
"transcript": "XM_017000665.2",
"protein_id": "XP_016856154.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 353,
"cds_start": 821,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000665.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Leu233Pro",
"transcript": "XM_017000666.2",
"protein_id": "XP_016856155.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 328,
"cds_start": 698,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000666.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.821T>C",
"hgvs_p": "p.Leu274Pro",
"transcript": "XM_011509290.3",
"protein_id": "XP_011507592.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 317,
"cds_start": 821,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509290.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Leu135Pro",
"transcript": "XM_024454040.2",
"protein_id": "XP_024309808.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 230,
"cds_start": 404,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454040.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "c.783T>C",
"hgvs_p": "p.Thr261Thr",
"transcript": "XM_011509291.2",
"protein_id": "XP_011507593.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 261,
"cds_start": 783,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509291.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "n.230T>C",
"hgvs_p": null,
"transcript": "ENST00000461298.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000461298.1"
},
{
"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": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "n.*98T>C",
"hgvs_p": null,
"transcript": "ENST00000467525.5",
"protein_id": "ENSP00000476495.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000467525.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR2A",
"gene_hgnc_id": 3616,
"hgvs_c": "n.391T>C",
"hgvs_p": null,
"transcript": "ENST00000471026.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000471026.5"
},
{
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}