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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: 16-29877325-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29877325&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEZ6L2",
"hgnc_id": 30844,
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Pro619Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001243332.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 69,
"alphamissense_prediction": null,
"alphamissense_score": 0.0833,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18519681692123413,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 923,
"aa_ref": "P",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 2386,
"cds_end": null,
"cds_length": 2772,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001243332.2",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Pro619Ser",
"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": "P",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 2386,
"cds_end": null,
"cds_length": 2772,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000617533.5",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Pro619Ser",
"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": "P",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3801,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 2733,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000308713.9",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Pro619Ser",
"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": "P",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1645,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000350527.7",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1645C>T",
"hgvs_p": "p.Pro549Ser",
"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": "P",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000346932.9",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Pro505Ser",
"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": "P",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 2117,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1873,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948745.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1873C>T",
"hgvs_p": "p.Pro625Ser",
"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": "P",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3804,
"cdna_start": 2386,
"cds_end": null,
"cds_length": 2733,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_201575.4",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Pro619Ser",
"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": "P",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1723,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001243333.2",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1723C>T",
"hgvs_p": "p.Pro575Ser",
"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": "P",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1723,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000537485.5",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1723C>T",
"hgvs_p": "p.Pro575Ser",
"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": "P",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 2386,
"cds_end": null,
"cds_length": 2580,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001388364.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Pro619Ser",
"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": "P",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 2358,
"cds_end": null,
"cds_length": 2580,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000876147.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Pro619Ser",
"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": "P",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3642,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1654,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001388365.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Pro552Ser",
"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
},
{
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"aa_ref": "P",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1645,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_012410.4",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1645C>T",
"hgvs_p": "p.Pro549Ser",
"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": "P",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3594,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1645,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001114099.3",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1645C>T",
"hgvs_p": "p.Pro549Ser",
"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",
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"aa_length": 840,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3303,
"cdna_start": 1888,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1645,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000876146.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1645C>T",
"hgvs_p": "p.Pro549Ser",
"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": "P",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001114100.3",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Pro505Ser",
"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": "P",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3462,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1513,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001388363.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Pro505Ser",
"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
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876145.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Pro505Ser",
"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",
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"aa_length": 789,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 2370,
"cds_start": 1645,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000876148.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1645C>T",
"hgvs_p": "p.Pro549Ser",
"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": "P",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 2349,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000932930.1",
"gene_hgnc_id": 30844,
"gene_symbol": "SEZ6L2",
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Pro619Ser",
"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": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
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}