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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-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=66840018&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "SGK3",
"hgnc_id": 10812,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_013257.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "C8orf44-SGK3",
"hgnc_id": 48354,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001204173.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.66,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001033578.3",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000521198.7",
"protein_coding": true,
"protein_id": "NP_001028750.1",
"strand": true,
"transcript": "NM_001033578.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000521198.7",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001033578.3",
"protein_coding": true,
"protein_id": "ENSP00000430463.1",
"strand": true,
"transcript": "ENST00000521198.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4055,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000345714.8",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000331816.5",
"strand": true,
"transcript": "ENST00000345714.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4190,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000396596.2",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379842.1",
"strand": true,
"transcript": "ENST00000396596.2",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2949,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000519289.1",
"gene_hgnc_id": 48354,
"gene_symbol": "C8orf44-SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429022.1",
"strand": true,
"transcript": "ENST00000519289.1",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 502,
"aa_ref": "Q",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1509,
"cds_start": 775,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000894060.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.775C>T",
"hgvs_p": "p.Gln259*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564119.1",
"strand": true,
"transcript": "ENST00000894060.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4519,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001204173.2",
"gene_hgnc_id": 48354,
"gene_symbol": "C8orf44-SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191102.1",
"strand": true,
"transcript": "NM_001204173.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_013257.5",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_037389.4",
"strand": true,
"transcript": "NM_013257.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000522398.5",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430256.1",
"strand": true,
"transcript": "ENST00000522398.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000894045.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564104.1",
"strand": true,
"transcript": "ENST00000894045.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000894046.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564105.1",
"strand": true,
"transcript": "ENST00000894046.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3242,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000894047.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564106.1",
"strand": true,
"transcript": "ENST00000894047.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2025,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000894052.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564111.1",
"strand": true,
"transcript": "ENST00000894052.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3041,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000894056.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564115.1",
"strand": true,
"transcript": "ENST00000894056.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000894058.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564117.1",
"strand": true,
"transcript": "ENST00000894058.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000894059.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564118.1",
"strand": true,
"transcript": "ENST00000894059.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4501,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000952508.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622567.1",
"strand": true,
"transcript": "ENST00000952508.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4246,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000952509.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622568.1",
"strand": true,
"transcript": "ENST00000952509.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952510.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622569.1",
"strand": true,
"transcript": "ENST00000952510.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952512.1",
"gene_hgnc_id": 10812,
"gene_symbol": "SGK3",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Gln253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622571.1",
"strand": true,
"transcript": "ENST00000952512.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1491,
"cds_start": 757,
"consequences": [
"stop_gained"
],
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