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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: 16-29872435-GCC-AGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29872435&ref=GCC&alt=AGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SEZ6L2",
"hgnc_id": 30844,
"hgvs_c": "c.2617_2619delGGCinsTCT",
"hgvs_p": "p.Gly873Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001243332.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 923,
"aa_ref": "G",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 3150,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001243332.2",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2617_2619delGGCinsTCT",
"hgvs_p": "p.Gly873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000617533.5",
"protein_coding": true,
"protein_id": "NP_001230261.1",
"strand": false,
"transcript": "NM_001243332.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 923,
"aa_ref": "G",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 3150,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617533.5",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2617_2619delGGCinsTCT",
"hgvs_p": "p.Gly873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001243332.2",
"protein_coding": true,
"protein_id": "ENSP00000481917.1",
"strand": false,
"transcript": "ENST00000617533.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 910,
"aa_ref": "G",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3801,
"cdna_start": 3108,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2578,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000308713.9",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2578_2580delGGCinsTCT",
"hgvs_p": "p.Gly860Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312550.5",
"strand": false,
"transcript": "ENST00000308713.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000350527.7",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2407_2409delGGCinsTCT",
"hgvs_p": "p.Gly803Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000310206.3",
"strand": false,
"transcript": "ENST00000350527.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 809,
"aa_ref": "G",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 2430,
"cds_start": 2275,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000346932.9",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2275_2277delGGCinsTCT",
"hgvs_p": "p.Gly759Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319215.6",
"strand": false,
"transcript": "ENST00000346932.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 916,
"aa_ref": "G",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 2751,
"cds_start": 2596,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948745.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2596_2598delGGCinsTCT",
"hgvs_p": "p.Gly866Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618804.1",
"strand": false,
"transcript": "ENST00000948745.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 910,
"aa_ref": "G",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3804,
"cdna_start": 3111,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2578,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201575.4",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2578_2580delGGCinsTCT",
"hgvs_p": "p.Gly860Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963869.2",
"strand": false,
"transcript": "NM_201575.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 879,
"aa_ref": "G",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 3018,
"cds_end": null,
"cds_length": 2640,
"cds_start": 2485,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001243333.2",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2485_2487delGGCinsTCT",
"hgvs_p": "p.Gly829Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230262.1",
"strand": false,
"transcript": "NM_001243333.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 879,
"aa_ref": "G",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 2640,
"cds_start": 2485,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000537485.5",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2485_2487delGGCinsTCT",
"hgvs_p": "p.Gly829Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439412.1",
"strand": false,
"transcript": "ENST00000537485.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 859,
"aa_ref": "G",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 2958,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388364.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2425_2427delGGCinsTCT",
"hgvs_p": "p.Gly809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375293.1",
"strand": false,
"transcript": "NM_001388364.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 859,
"aa_ref": "G",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 2930,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876147.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2425_2427delGGCinsTCT",
"hgvs_p": "p.Gly809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546206.1",
"strand": false,
"transcript": "ENST00000876147.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 856,
"aa_ref": "G",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3642,
"cdna_start": 2949,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2416,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388365.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2416_2418delGGCinsTCT",
"hgvs_p": "p.Gly806Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375294.1",
"strand": false,
"transcript": "NM_001388365.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2940,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012410.4",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2407_2409delGGCinsTCT",
"hgvs_p": "p.Gly803Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036542.1",
"strand": false,
"transcript": "NM_012410.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 840,
"aa_ref": "G",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3594,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2368,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001114099.3",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2368_2370delGGCinsTCT",
"hgvs_p": "p.Gly790Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107571.1",
"strand": false,
"transcript": "NM_001114099.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 840,
"aa_ref": "G",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3303,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2368,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876146.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2368_2370delGGCinsTCT",
"hgvs_p": "p.Gly790Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546205.1",
"strand": false,
"transcript": "ENST00000876146.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 809,
"aa_ref": "G",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 2430,
"cds_start": 2275,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001114100.3",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2275_2277delGGCinsTCT",
"hgvs_p": "p.Gly759Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107572.1",
"strand": false,
"transcript": "NM_001114100.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 796,
"aa_ref": "G",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3462,
"cdna_start": 2769,
"cds_end": null,
"cds_length": 2391,
"cds_start": 2236,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388363.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2236_2238delGGCinsTCT",
"hgvs_p": "p.Gly746Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375292.1",
"strand": false,
"transcript": "NM_001388363.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 796,
"aa_ref": "G",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 2391,
"cds_start": 2236,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876145.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2236_2238delGGCinsTCT",
"hgvs_p": "p.Gly746Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546204.1",
"strand": false,
"transcript": "ENST00000876145.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 789,
"aa_ref": "G",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2370,
"cds_start": 2215,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876148.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2215_2217delGGCinsTCT",
"hgvs_p": "p.Gly739Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546207.1",
"strand": false,
"transcript": "ENST00000876148.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 782,
"aa_ref": "G",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2194,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932930.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.2194_2196delGGCinsTCT",
"hgvs_p": "p.Gly732Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602989.1",
"strand": false,
"transcript": "ENST00000932930.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 739,
"aa_ref": "G",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 2220,
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