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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: 5-66170712-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=66170712&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SREK1",
"hgnc_id": 17882,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417Trp",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001077199.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.2378,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "5",
"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": 0.07219979166984558,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6699,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001077199.3",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334121.11",
"protein_coding": true,
"protein_id": "NP_001070667.1",
"strand": true,
"transcript": "NM_001077199.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6699,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000334121.11",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001077199.3",
"protein_coding": true,
"protein_id": "ENSP00000334538.6",
"strand": true,
"transcript": "ENST00000334121.11",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1527,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000380918.7",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370305.3",
"strand": true,
"transcript": "ENST00000380918.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000284041.7",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "n.1182C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000284041.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000522912.5",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "n.*974C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427935.1",
"strand": true,
"transcript": "ENST00000522912.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000522912.5",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "n.*974C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427935.1",
"strand": true,
"transcript": "ENST00000522912.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 623,
"aa_ref": "R",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6696,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323529.2",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310458.1",
"strand": true,
"transcript": "NM_001323529.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 623,
"aa_ref": "R",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5332,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868036.1",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538095.1",
"strand": true,
"transcript": "ENST00000868036.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 623,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4050,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000936174.1",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Arg416Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606233.1",
"strand": true,
"transcript": "ENST00000936174.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3959,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000936175.1",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606234.1",
"strand": true,
"transcript": "ENST00000936175.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6554,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323533.2",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310462.1",
"strand": true,
"transcript": "NM_001323533.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6823,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1527,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001323527.2",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310456.1",
"strand": true,
"transcript": "NM_001323527.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6934,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1527,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_139168.4",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_631907.1",
"strand": true,
"transcript": "NM_139168.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6820,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1524,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001270492.2",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257421.1",
"strand": true,
"transcript": "NM_001270492.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6714,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1080,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001323534.2",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310463.1",
"strand": true,
"transcript": "NM_001323534.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6587,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1077,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323535.2",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310464.1",
"strand": true,
"transcript": "NM_001323535.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11036,
"cdna_start": 5663,
"cds_end": null,
"cds_length": 1527,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011543171.4",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541473.1",
"strand": true,
"transcript": "XM_011543171.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12432,
"cdna_start": 7059,
"cds_end": null,
"cds_length": 1527,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416738.1",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272694.1",
"strand": true,
"transcript": "XM_047416738.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6536,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1527,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416739.1",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272695.1",
"strand": true,
"transcript": "XM_047416739.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12429,
"cdna_start": 7059,
"cds_end": null,
"cds_length": 1524,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416740.1",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272696.1",
"strand": true,
"transcript": "XM_047416740.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3691,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868037.1",
"gene_hgnc_id": 17882,
"gene_symbol": "SREK1",
"hgvs_c": "c.1121+542C>T",
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