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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: 11-6431752-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6431752&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 6431752,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000613.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.1018G>C",
"hgvs_p": "p.Gly340Arg",
"transcript": "NM_000613.3",
"protein_id": "NP_000604.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 462,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265983.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000613.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.1018G>C",
"hgvs_p": "p.Gly340Arg",
"transcript": "ENST00000265983.8",
"protein_id": "ENSP00000265983.3",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 462,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000613.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265983.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Gly339Arg",
"transcript": "ENST00000868746.1",
"protein_id": "ENSP00000538805.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 461,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868746.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Gly337Arg",
"transcript": "ENST00000868752.1",
"protein_id": "ENSP00000538811.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 459,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868752.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.1006G>C",
"hgvs_p": "p.Gly336Arg",
"transcript": "ENST00000868750.1",
"protein_id": "ENSP00000538809.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 458,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868750.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.988G>C",
"hgvs_p": "p.Gly330Arg",
"transcript": "ENST00000868773.1",
"protein_id": "ENSP00000538832.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 452,
"cds_start": 988,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868773.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.985G>C",
"hgvs_p": "p.Gly329Arg",
"transcript": "ENST00000868753.1",
"protein_id": "ENSP00000538812.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 451,
"cds_start": 985,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868753.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.1018G>C",
"hgvs_p": "p.Gly340Arg",
"transcript": "ENST00000868755.1",
"protein_id": "ENSP00000538814.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 451,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868755.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.982G>C",
"hgvs_p": "p.Gly328Arg",
"transcript": "ENST00000868768.1",
"protein_id": "ENSP00000538827.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 450,
"cds_start": 982,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868768.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Gly316Arg",
"transcript": "ENST00000868760.1",
"protein_id": "ENSP00000538819.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 438,
"cds_start": 946,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868760.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.922G>C",
"hgvs_p": "p.Gly308Arg",
"transcript": "ENST00000868751.1",
"protein_id": "ENSP00000538810.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 430,
"cds_start": 922,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868751.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.886G>C",
"hgvs_p": "p.Gly296Arg",
"transcript": "ENST00000868757.1",
"protein_id": "ENSP00000538816.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 418,
"cds_start": 886,
"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": "ENST00000868757.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000868756.1",
"protein_id": "ENSP00000538815.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 414,
"cds_start": 874,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868756.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Gly287Arg",
"transcript": "ENST00000868761.1",
"protein_id": "ENSP00000538820.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 409,
"cds_start": 859,
"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": "ENST00000868761.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Gly281Arg",
"transcript": "ENST00000868759.1",
"protein_id": "ENSP00000538818.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 403,
"cds_start": 841,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868759.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Gly280Arg",
"transcript": "ENST00000868770.1",
"protein_id": "ENSP00000538829.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 402,
"cds_start": 838,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868770.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.805G>C",
"hgvs_p": "p.Gly269Arg",
"transcript": "ENST00000868748.1",
"protein_id": "ENSP00000538807.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 391,
"cds_start": 805,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868748.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.796G>C",
"hgvs_p": "p.Gly266Arg",
"transcript": "ENST00000868765.1",
"protein_id": "ENSP00000538824.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 388,
"cds_start": 796,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868765.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.748G>C",
"hgvs_p": "p.Gly250Arg",
"transcript": "ENST00000868754.1",
"protein_id": "ENSP00000538813.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 372,
"cds_start": 748,
"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": "ENST00000868754.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Gly248Arg",
"transcript": "ENST00000868745.1",
"protein_id": "ENSP00000538804.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 370,
"cds_start": 742,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868745.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Gly245Arg",
"transcript": "ENST00000868758.1",
"protein_id": "ENSP00000538817.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 367,
"cds_start": 733,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868758.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPX",
"gene_hgnc_id": 5171,
"hgvs_c": "c.703G>C",
"hgvs_p": "p.Gly235Arg",
"transcript": "ENST00000868775.1",
"protein_id": "ENSP00000538834.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 357,
"cds_start": 703,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868775.1"
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}