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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: 9-113318615-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113318615&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 113318615,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001012361.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.803G>C",
"hgvs_p": "p.Arg268Pro",
"transcript": "NM_001012361.4",
"protein_id": "NP_001012361.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 367,
"cds_start": 803,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374193.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012361.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.803G>C",
"hgvs_p": "p.Arg268Pro",
"transcript": "ENST00000374193.9",
"protein_id": "ENSP00000363308.3",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 367,
"cds_start": 803,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001012361.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374193.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "n.992G>C",
"hgvs_p": null,
"transcript": "ENST00000461942.5",
"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": "ENST00000461942.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Arg272Pro",
"transcript": "ENST00000944273.1",
"protein_id": "ENSP00000614332.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 371,
"cds_start": 815,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944273.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "ENST00000865157.1",
"protein_id": "ENSP00000535216.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 368,
"cds_start": 806,
"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": "ENST00000865157.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Pro",
"transcript": "ENST00000944266.1",
"protein_id": "ENSP00000614325.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 368,
"cds_start": 806,
"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": "ENST00000944266.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.803G>C",
"hgvs_p": "p.Arg268Pro",
"transcript": "ENST00000865155.1",
"protein_id": "ENSP00000535214.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 367,
"cds_start": 803,
"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": "ENST00000865155.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.803G>C",
"hgvs_p": "p.Arg268Pro",
"transcript": "ENST00000865161.1",
"protein_id": "ENSP00000535220.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 367,
"cds_start": 803,
"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": "ENST00000865161.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.803G>C",
"hgvs_p": "p.Arg268Pro",
"transcript": "ENST00000944262.1",
"protein_id": "ENSP00000614321.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 367,
"cds_start": 803,
"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": "ENST00000944262.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.803G>C",
"hgvs_p": "p.Arg268Pro",
"transcript": "ENST00000944269.1",
"protein_id": "ENSP00000614328.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 367,
"cds_start": 803,
"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": "ENST00000944269.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.803G>C",
"hgvs_p": "p.Arg268Pro",
"transcript": "ENST00000944271.1",
"protein_id": "ENSP00000614330.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 367,
"cds_start": 803,
"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": "ENST00000944271.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.800G>C",
"hgvs_p": "p.Arg267Pro",
"transcript": "NM_145241.5",
"protein_id": "NP_660284.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 366,
"cds_start": 800,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145241.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.800G>C",
"hgvs_p": "p.Arg267Pro",
"transcript": "ENST00000341761.8",
"protein_id": "ENSP00000345027.3",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 366,
"cds_start": 800,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341761.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.800G>C",
"hgvs_p": "p.Arg267Pro",
"transcript": "ENST00000865156.1",
"protein_id": "ENSP00000535215.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 366,
"cds_start": 800,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865156.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.800G>C",
"hgvs_p": "p.Arg267Pro",
"transcript": "ENST00000944265.1",
"protein_id": "ENSP00000614324.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 366,
"cds_start": 800,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944265.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.728G>C",
"hgvs_p": "p.Arg243Pro",
"transcript": "ENST00000865159.1",
"protein_id": "ENSP00000535218.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 342,
"cds_start": 728,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865159.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.728G>C",
"hgvs_p": "p.Arg243Pro",
"transcript": "ENST00000865160.1",
"protein_id": "ENSP00000535219.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 342,
"cds_start": 728,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865160.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.725G>C",
"hgvs_p": "p.Arg242Pro",
"transcript": "ENST00000865158.1",
"protein_id": "ENSP00000535217.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 341,
"cds_start": 725,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865158.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.725G>C",
"hgvs_p": "p.Arg242Pro",
"transcript": "ENST00000944270.1",
"protein_id": "ENSP00000614329.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 341,
"cds_start": 725,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944270.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.701G>C",
"hgvs_p": "p.Arg234Pro",
"transcript": "ENST00000944263.1",
"protein_id": "ENSP00000614322.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 333,
"cds_start": 701,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944263.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.698G>C",
"hgvs_p": "p.Arg233Pro",
"transcript": "ENST00000944267.1",
"protein_id": "ENSP00000614326.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 332,
"cds_start": 698,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944267.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR31",
"gene_hgnc_id": 21421,
"hgvs_c": "c.626G>C",
"hgvs_p": "p.Arg209Pro",
"transcript": "ENST00000944264.1",
"protein_id": "ENSP00000614323.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 308,
"cds_start": 626,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944264.1"
},
{
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}
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}