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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: 5-75590429-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75590429&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75590429,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000241436.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Glu449Lys",
"transcript": "ENST00000241436.9",
"protein_id": "ENSP00000241436.4",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 870,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 14623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Glu449Lys",
"transcript": "ENST00000515295.5",
"protein_id": "ENSP00000424174.1",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 472,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Glu449Lys",
"transcript": "ENST00000504026.5",
"protein_id": "ENSP00000425075.1",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 461,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.935-5793G>A",
"hgvs_p": null,
"transcript": "ENST00000508526.5",
"protein_id": "ENSP00000426853.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": -4,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.1259+3371G>A",
"hgvs_p": null,
"transcript": "ENST00000514141.5",
"protein_id": "ENSP00000423526.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "NM_001387111.3",
"protein_id": "NP_001374040.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 884,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "NM_001395894.1",
"protein_id": "NP_001382823.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 884,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 14802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Glu462Lys",
"transcript": "NM_001395897.1",
"protein_id": "NP_001382826.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 883,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 14799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Glu449Lys",
"transcript": "NM_001387113.3",
"protein_id": "NP_001374042.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 870,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 14760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Glu449Lys",
"transcript": "NM_016218.6",
"protein_id": "NP_057302.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 870,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 14623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Glu446Lys",
"transcript": "NM_001387110.3",
"protein_id": "NP_001374039.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 867,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 14614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Glu398Lys",
"transcript": "NM_001395899.1",
"protein_id": "NP_001382828.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 819,
"cds_start": 1192,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 14470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Glu383Lys",
"transcript": "NM_001345921.3",
"protein_id": "NP_001332850.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 804,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 14475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Glu383Lys",
"transcript": "NM_001395900.1",
"protein_id": "NP_001382829.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 804,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 14612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Glu369Lys",
"transcript": "NM_001395901.1",
"protein_id": "NP_001382830.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 790,
"cds_start": 1105,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 14383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Glu359Lys",
"transcript": "NM_001345922.3",
"protein_id": "NP_001332851.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 780,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 14737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Glu359Lys",
"transcript": "NM_001395893.1",
"protein_id": "NP_001382822.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 780,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 14874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Glu359Lys",
"transcript": "NM_001395902.1",
"protein_id": "NP_001382831.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 780,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 14589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "XM_054328410.1",
"protein_id": "XP_054184385.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 884,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 14968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "XM_054328411.1",
"protein_id": "XP_054184386.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 884,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 14937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "XM_054328412.1",
"protein_id": "XP_054184387.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 884,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 14715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "XM_054328413.1",
"protein_id": "XP_054184388.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 884,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 14666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
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}