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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: 8-66840018-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=66840018&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 66840018,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_013257.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "NM_001033578.3",
"protein_id": "NP_001028750.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000521198.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033578.3"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000521198.7",
"protein_id": "ENSP00000430463.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001033578.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521198.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000345714.8",
"protein_id": "ENSP00000331816.5",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345714.8"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000396596.2",
"protein_id": "ENSP00000379842.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396596.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf44-SGK3",
"gene_hgnc_id": 48354,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000519289.1",
"protein_id": "ENSP00000429022.1",
"transcript_support_level": 2,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519289.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.775C>A",
"hgvs_p": "p.Gln259Lys",
"transcript": "ENST00000894060.1",
"protein_id": "ENSP00000564119.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 502,
"cds_start": 775,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894060.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8orf44-SGK3",
"gene_hgnc_id": 48354,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "NM_001204173.2",
"protein_id": "NP_001191102.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204173.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "NM_013257.5",
"protein_id": "NP_037389.4",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013257.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000522398.5",
"protein_id": "ENSP00000430256.1",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522398.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000894045.1",
"protein_id": "ENSP00000564104.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894045.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000894046.1",
"protein_id": "ENSP00000564105.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894046.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000894047.1",
"protein_id": "ENSP00000564106.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894047.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000894052.1",
"protein_id": "ENSP00000564111.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894052.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000894056.1",
"protein_id": "ENSP00000564115.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894056.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000894058.1",
"protein_id": "ENSP00000564117.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894058.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000894059.1",
"protein_id": "ENSP00000564118.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894059.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000952508.1",
"protein_id": "ENSP00000622567.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952508.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000952509.1",
"protein_id": "ENSP00000622568.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952509.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000952510.1",
"protein_id": "ENSP00000622569.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952510.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000952512.1",
"protein_id": "ENSP00000622571.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952512.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000952514.1",
"protein_id": "ENSP00000622573.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952514.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK3",
"gene_hgnc_id": 10812,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Gln253Lys",
"transcript": "ENST00000952517.1",
"protein_id": "ENSP00000622576.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 496,
"cds_start": 757,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
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{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}