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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: 17-17813395-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17813395&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17813395,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001005291.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3187C>T",
"hgvs_p": "p.Arg1063Trp",
"transcript": "NM_004176.5",
"protein_id": "NP_004167.3",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3187,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261646.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004176.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3187C>T",
"hgvs_p": "p.Arg1063Trp",
"transcript": "ENST00000261646.11",
"protein_id": "ENSP00000261646.5",
"transcript_support_level": 1,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3187,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004176.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261646.11"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3277C>T",
"hgvs_p": "p.Arg1093Trp",
"transcript": "ENST00000355815.8",
"protein_id": "ENSP00000348069.4",
"transcript_support_level": 1,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1177,
"cds_start": 3277,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355815.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3277C>T",
"hgvs_p": "p.Arg1093Trp",
"transcript": "NM_001005291.3",
"protein_id": "NP_001005291.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1177,
"cds_start": 3277,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005291.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3274C>T",
"hgvs_p": "p.Arg1092Trp",
"transcript": "NM_001388385.1",
"protein_id": "NP_001375314.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3274,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388385.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3271C>T",
"hgvs_p": "p.Arg1091Trp",
"transcript": "ENST00000892469.1",
"protein_id": "ENSP00000562529.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892469.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3226C>T",
"hgvs_p": "p.Arg1076Trp",
"transcript": "NM_001388387.1",
"protein_id": "NP_001375316.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3226,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388387.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3184C>T",
"hgvs_p": "p.Arg1062Trp",
"transcript": "ENST00000892473.1",
"protein_id": "ENSP00000562532.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3184,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892473.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3181C>T",
"hgvs_p": "p.Arg1061Trp",
"transcript": "NM_001388389.1",
"protein_id": "NP_001375318.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388389.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3181C>T",
"hgvs_p": "p.Arg1061Trp",
"transcript": "ENST00000892472.1",
"protein_id": "ENSP00000562530.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892472.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3169C>T",
"hgvs_p": "p.Arg1057Trp",
"transcript": "NM_001388390.1",
"protein_id": "NP_001375319.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388390.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3169C>T",
"hgvs_p": "p.Arg1057Trp",
"transcript": "ENST00000892477.1",
"protein_id": "ENSP00000562536.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892477.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3160C>T",
"hgvs_p": "p.Arg1054Trp",
"transcript": "NM_001388391.1",
"protein_id": "NP_001375320.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1138,
"cds_start": 3160,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388391.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3160C>T",
"hgvs_p": "p.Arg1054Trp",
"transcript": "ENST00000918821.1",
"protein_id": "ENSP00000588880.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1138,
"cds_start": 3160,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918821.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3124C>T",
"hgvs_p": "p.Arg1042Trp",
"transcript": "ENST00000892480.1",
"protein_id": "ENSP00000562539.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892480.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3115C>T",
"hgvs_p": "p.Arg1039Trp",
"transcript": "NM_001321096.3",
"protein_id": "NP_001308025.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3115,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321096.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.3043C>T",
"hgvs_p": "p.Arg1015Trp",
"transcript": "ENST00000918822.1",
"protein_id": "ENSP00000588881.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918822.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2965C>T",
"hgvs_p": "p.Arg989Trp",
"transcript": "NM_001388392.1",
"protein_id": "NP_001375321.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388392.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936Trp",
"transcript": "NM_001388393.1",
"protein_id": "NP_001375322.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2806,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388393.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.Arg919Trp",
"transcript": "NM_001388394.1",
"protein_id": "NP_001375323.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388394.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.Arg919Trp",
"transcript": "ENST00000892475.1",
"protein_id": "ENSP00000562534.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892475.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.1930C>T",
"hgvs_p": "p.Arg644Trp",
"transcript": "ENST00000918823.1",
"protein_id": "ENSP00000588882.1",
"transcript_support_level": null,
"aa_start": 644,
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"hgvs_c": "c.3277C>T",
"hgvs_p": "p.Arg1093Trp"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NR_106835.1",
"gene_symbol": "MIR6777",
"hgnc_id": 50173,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*85C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}