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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: 17-37540414-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=37540414&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYNRG",
"hgnc_id": 557,
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001405103.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5031,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.49868932366371155,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1314,
"aa_ref": "R",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8141,
"cdna_start": 3395,
"cds_end": null,
"cds_length": 3945,
"cds_start": 3332,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_007247.6",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3332G>A",
"hgvs_p": "p.Arg1111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000612223.5",
"protein_coding": true,
"protein_id": "NP_009178.3",
"strand": false,
"transcript": "NM_007247.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1314,
"aa_ref": "R",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8141,
"cdna_start": 3395,
"cds_end": null,
"cds_length": 3945,
"cds_start": 3332,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000612223.5",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3332G>A",
"hgvs_p": "p.Arg1111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007247.6",
"protein_coding": true,
"protein_id": "ENSP00000483453.1",
"strand": false,
"transcript": "ENST00000612223.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "R",
"aa_start": 1033,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": 3124,
"cds_end": null,
"cds_length": 3780,
"cds_start": 3098,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000622045.4",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3098G>A",
"hgvs_p": "p.Arg1033Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483063.1",
"strand": false,
"transcript": "ENST00000622045.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "R",
"aa_start": 1032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3787,
"cdna_start": 3121,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3095,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000619541.4",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3095G>A",
"hgvs_p": "p.Arg1032Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477885.1",
"strand": false,
"transcript": "ENST00000619541.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "R",
"aa_start": 1033,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4841,
"cdna_start": 3154,
"cds_end": null,
"cds_length": 3675,
"cds_start": 3098,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000621136.4",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3098G>A",
"hgvs_p": "p.Arg1033Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484529.1",
"strand": false,
"transcript": "ENST00000621136.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1108,
"aa_ref": "R",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3406,
"cdna_start": 2740,
"cds_end": null,
"cds_length": 3327,
"cds_start": 2714,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000614941.4",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.2714G>A",
"hgvs_p": "p.Arg905Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481151.1",
"strand": false,
"transcript": "ENST00000614941.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "R",
"aa_start": 1212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8513,
"cdna_start": 3698,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3635,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001405103.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392032.1",
"strand": false,
"transcript": "NM_001405103.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1415,
"aa_ref": "R",
"aa_start": 1212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4777,
"cdna_start": 3685,
"cds_end": null,
"cds_length": 4248,
"cds_start": 3635,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000864300.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534359.1",
"strand": false,
"transcript": "ENST00000864300.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1414,
"aa_ref": "R",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4767,
"cdna_start": 3682,
"cds_end": null,
"cds_length": 4245,
"cds_start": 3632,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000864302.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3632G>A",
"hgvs_p": "p.Arg1211Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534361.1",
"strand": false,
"transcript": "ENST00000864302.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "R",
"aa_start": 1212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5386,
"cdna_start": 3701,
"cds_end": null,
"cds_length": 4212,
"cds_start": 3635,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000936287.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606346.1",
"strand": false,
"transcript": "ENST00000936287.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1402,
"aa_ref": "R",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 3697,
"cds_end": null,
"cds_length": 4209,
"cds_start": 3632,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000936288.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3632G>A",
"hgvs_p": "p.Arg1211Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606347.1",
"strand": false,
"transcript": "ENST00000936288.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1388,
"aa_ref": "R",
"aa_start": 1212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4707,
"cdna_start": 3696,
"cds_end": null,
"cds_length": 4167,
"cds_start": 3635,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000864297.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534356.1",
"strand": false,
"transcript": "ENST00000864297.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1370,
"aa_ref": "R",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5273,
"cdna_start": 3557,
"cds_end": null,
"cds_length": 4113,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000864291.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3500G>A",
"hgvs_p": "p.Arg1167Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534350.1",
"strand": false,
"transcript": "ENST00000864291.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "R",
"aa_start": 1166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4628,
"cdna_start": 3540,
"cds_end": null,
"cds_length": 4110,
"cds_start": 3497,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000864304.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3497G>A",
"hgvs_p": "p.Arg1166Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534363.1",
"strand": false,
"transcript": "ENST00000864304.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "R",
"aa_start": 1166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5536,
"cdna_start": 3511,
"cds_end": null,
"cds_length": 4110,
"cds_start": 3497,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000972435.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3497G>A",
"hgvs_p": "p.Arg1166Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642494.1",
"strand": false,
"transcript": "ENST00000972435.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1368,
"aa_ref": "R",
"aa_start": 1165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8214,
"cdna_start": 3571,
"cds_end": null,
"cds_length": 4107,
"cds_start": 3494,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000936284.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3494G>A",
"hgvs_p": "p.Arg1165Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606343.1",
"strand": false,
"transcript": "ENST00000936284.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1358,
"aa_ref": "R",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4599,
"cdna_start": 3543,
"cds_end": null,
"cds_length": 4077,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000864303.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3500G>A",
"hgvs_p": "p.Arg1167Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534362.1",
"strand": false,
"transcript": "ENST00000864303.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "R",
"aa_start": 1166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5250,
"cdna_start": 3563,
"cds_end": null,
"cds_length": 4074,
"cds_start": 3497,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000936286.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3497G>A",
"hgvs_p": "p.Arg1166Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606345.1",
"strand": false,
"transcript": "ENST00000936286.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1356,
"aa_ref": "R",
"aa_start": 1165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 3561,
"cds_end": null,
"cds_length": 4071,
"cds_start": 3494,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000864296.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3494G>A",
"hgvs_p": "p.Arg1165Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534355.1",
"strand": false,
"transcript": "ENST00000864296.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "R",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 3678,
"cds_end": null,
"cds_length": 3999,
"cds_start": 3632,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000936290.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
"hgvs_c": "c.3632G>A",
"hgvs_p": "p.Arg1211Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606349.1",
"strand": false,
"transcript": "ENST00000936290.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "R",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 3393,
"cds_end": null,
"cds_length": 3993,
"cds_start": 3380,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000972438.1",
"gene_hgnc_id": 557,
"gene_symbol": "SYNRG",
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