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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: 4-88732153-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=88732153&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 88732153,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014883.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2692T>C",
"hgvs_p": "p.Phe898Leu",
"transcript": "NM_014883.4",
"protein_id": "NP_055698.2",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2692,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264344.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014883.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2692T>C",
"hgvs_p": "p.Phe898Leu",
"transcript": "ENST00000264344.10",
"protein_id": "ENSP00000264344.5",
"transcript_support_level": 5,
"aa_start": 898,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2692,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014883.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264344.10"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.1672T>C",
"hgvs_p": "p.Phe558Leu",
"transcript": "ENST00000503556.5",
"protein_id": "ENSP00000427189.1",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 683,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503556.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.1630T>C",
"hgvs_p": "p.Phe544Leu",
"transcript": "ENST00000395002.6",
"protein_id": "ENSP00000378450.2",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 669,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395002.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.1450T>C",
"hgvs_p": "p.Phe484Leu",
"transcript": "ENST00000511976.5",
"protein_id": "ENSP00000421914.1",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 609,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511976.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2650T>C",
"hgvs_p": "p.Phe884Leu",
"transcript": "ENST00000933309.1",
"protein_id": "ENSP00000603368.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2650,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933309.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2572T>C",
"hgvs_p": "p.Phe858Leu",
"transcript": "ENST00000933310.1",
"protein_id": "ENSP00000603369.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 983,
"cds_start": 2572,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933310.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2566T>C",
"hgvs_p": "p.Phe856Leu",
"transcript": "ENST00000889026.1",
"protein_id": "ENSP00000559085.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 981,
"cds_start": 2566,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889026.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2566T>C",
"hgvs_p": "p.Phe856Leu",
"transcript": "ENST00000953080.1",
"protein_id": "ENSP00000623140.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 981,
"cds_start": 2566,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953080.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2482T>C",
"hgvs_p": "p.Phe828Leu",
"transcript": "ENST00000953082.1",
"protein_id": "ENSP00000623141.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 953,
"cds_start": 2482,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953082.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.1714T>C",
"hgvs_p": "p.Phe572Leu",
"transcript": "NM_001015045.3",
"protein_id": "NP_001015045.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 697,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015045.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.1714T>C",
"hgvs_p": "p.Phe572Leu",
"transcript": "ENST00000508369.5",
"protein_id": "ENSP00000421562.1",
"transcript_support_level": 5,
"aa_start": 572,
"aa_end": null,
"aa_length": 697,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508369.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.1672T>C",
"hgvs_p": "p.Phe558Leu",
"transcript": "NM_001265578.2",
"protein_id": "NP_001252507.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 683,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265578.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.1630T>C",
"hgvs_p": "p.Phe544Leu",
"transcript": "NM_001265579.2",
"protein_id": "NP_001252508.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 669,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265579.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.1630T>C",
"hgvs_p": "p.Phe544Leu",
"transcript": "NM_001265580.2",
"protein_id": "NP_001252509.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 669,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265580.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.1630T>C",
"hgvs_p": "p.Phe544Leu",
"transcript": "ENST00000513837.5",
"protein_id": "ENSP00000423252.1",
"transcript_support_level": 2,
"aa_start": 544,
"aa_end": null,
"aa_length": 669,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513837.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2692T>C",
"hgvs_p": "p.Phe898Leu",
"transcript": "XM_011531516.2",
"protein_id": "XP_011529818.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2692,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531516.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2650T>C",
"hgvs_p": "p.Phe884Leu",
"transcript": "XM_047449479.1",
"protein_id": "XP_047305435.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2650,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449479.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2608T>C",
"hgvs_p": "p.Phe870Leu",
"transcript": "XM_005262683.4",
"protein_id": "XP_005262740.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 995,
"cds_start": 2608,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262683.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2608T>C",
"hgvs_p": "p.Phe870Leu",
"transcript": "XM_011531517.3",
"protein_id": "XP_011529819.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 995,
"cds_start": 2608,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531517.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2566T>C",
"hgvs_p": "p.Phe856Leu",
"transcript": "XM_017007624.3",
"protein_id": "XP_016863113.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 981,
"cds_start": 2566,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007624.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13A",
"gene_hgnc_id": 19367,
"hgvs_c": "c.2566T>C",
"hgvs_p": "p.Phe856Leu",
"transcript": "XM_047449480.1",
"protein_id": "XP_047305436.1",
"transcript_support_level": null,
"aa_start": 856,
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"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014883.4",
"gene_symbol": "FAM13A",
"hgnc_id": 19367,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2692T>C",
"hgvs_p": "p.Phe898Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}