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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: 6-31778997-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31778997&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "VARS1",
"hgnc_id": 12651,
"hgvs_c": "c.3696G>A",
"hgvs_p": "p.Pro1232Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_006295.3",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "Y_RNA",
"hgnc_id": null,
"hgvs_c": "n.-92G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000364685.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 111,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "P",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4111,
"cdna_start": 3936,
"cds_end": null,
"cds_length": 3795,
"cds_start": 3696,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_006295.3",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3696G>A",
"hgvs_p": "p.Pro1232Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375663.8",
"protein_coding": true,
"protein_id": "NP_006286.1",
"strand": false,
"transcript": "NM_006295.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "P",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4111,
"cdna_start": 3936,
"cds_end": null,
"cds_length": 3795,
"cds_start": 3696,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000375663.8",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3696G>A",
"hgvs_p": "p.Pro1232Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006295.3",
"protein_coding": true,
"protein_id": "ENSP00000364815.3",
"strand": false,
"transcript": "ENST00000375663.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1279,
"aa_ref": "P",
"aa_start": 1247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 3883,
"cds_end": null,
"cds_length": 3840,
"cds_start": 3741,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000851851.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3741G>A",
"hgvs_p": "p.Pro1247Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521910.1",
"strand": false,
"transcript": "ENST00000851851.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1277,
"aa_ref": "P",
"aa_start": 1245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4150,
"cdna_start": 3975,
"cds_end": null,
"cds_length": 3834,
"cds_start": 3735,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000851849.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3735G>A",
"hgvs_p": "p.Pro1245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521908.1",
"strand": false,
"transcript": "ENST00000851849.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1275,
"aa_ref": "P",
"aa_start": 1243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4322,
"cdna_start": 4151,
"cds_end": null,
"cds_length": 3828,
"cds_start": 3729,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000941400.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3729G>A",
"hgvs_p": "p.Pro1243Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611459.1",
"strand": false,
"transcript": "ENST00000941400.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "P",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4312,
"cdna_start": 4137,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3699,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000851848.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3699G>A",
"hgvs_p": "p.Pro1233Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521907.1",
"strand": false,
"transcript": "ENST00000851848.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1263,
"aa_ref": "P",
"aa_start": 1231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 3942,
"cds_end": null,
"cds_length": 3792,
"cds_start": 3693,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000925769.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3693G>A",
"hgvs_p": "p.Pro1231Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595828.1",
"strand": false,
"transcript": "ENST00000925769.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "P",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4131,
"cdna_start": 3969,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3696,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000941401.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3696G>A",
"hgvs_p": "p.Pro1232Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611460.1",
"strand": false,
"transcript": "ENST00000941401.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "P",
"aa_start": 1228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4071,
"cdna_start": 3896,
"cds_end": null,
"cds_length": 3783,
"cds_start": 3684,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000925773.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3684G>A",
"hgvs_p": "p.Pro1228Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595832.1",
"strand": false,
"transcript": "ENST00000925773.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "P",
"aa_start": 1228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 3886,
"cds_end": null,
"cds_length": 3783,
"cds_start": 3684,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000925774.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3684G>A",
"hgvs_p": "p.Pro1228Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595833.1",
"strand": false,
"transcript": "ENST00000925774.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "P",
"aa_start": 1227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4044,
"cdna_start": 3869,
"cds_end": null,
"cds_length": 3780,
"cds_start": 3681,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000925775.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3681G>A",
"hgvs_p": "p.Pro1227Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595834.1",
"strand": false,
"transcript": "ENST00000925775.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1258,
"aa_ref": "P",
"aa_start": 1226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": 3899,
"cds_end": null,
"cds_length": 3777,
"cds_start": 3678,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000925772.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3678G>A",
"hgvs_p": "p.Pro1226Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595831.1",
"strand": false,
"transcript": "ENST00000925772.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1256,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 3921,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3672,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000925770.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3672G>A",
"hgvs_p": "p.Pro1224Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595829.1",
"strand": false,
"transcript": "ENST00000925770.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1222,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 3791,
"cds_end": null,
"cds_length": 3669,
"cds_start": 3570,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000925771.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3570G>A",
"hgvs_p": "p.Pro1190Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595830.1",
"strand": false,
"transcript": "ENST00000925771.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "P",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3915,
"cdna_start": 3744,
"cds_end": null,
"cds_length": 3660,
"cds_start": 3561,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000851850.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3561G>A",
"hgvs_p": "p.Pro1187Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521909.1",
"strand": false,
"transcript": "ENST00000851850.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1219,
"aa_ref": "P",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 3831,
"cds_end": null,
"cds_length": 3660,
"cds_start": 3561,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000925776.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3561G>A",
"hgvs_p": "p.Pro1187Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595835.1",
"strand": false,
"transcript": "ENST00000925776.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 3902,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3537,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000925768.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3537G>A",
"hgvs_p": "p.Pro1179Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595827.1",
"strand": false,
"transcript": "ENST00000925768.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1265,
"aa_ref": "P",
"aa_start": 1233,
"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4114,
"cdna_start": 3939,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3699,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_005249362.3",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3699G>A",
"hgvs_p": "p.Pro1233Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005249419.1",
"strand": false,
"transcript": "XM_005249362.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "P",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4409,
"cdna_start": 4234,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3699,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047419296.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3699G>A",
"hgvs_p": "p.Pro1233Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275252.1",
"strand": false,
"transcript": "XM_047419296.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "P",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 4231,
"cds_end": null,
"cds_length": 3795,
"cds_start": 3696,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047419297.1",
"gene_hgnc_id": 12651,
"gene_symbol": "VARS1",
"hgvs_c": "c.3696G>A",
"hgvs_p": "p.Pro1232Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275253.1",
"strand": false,
"transcript": "XM_047419297.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
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]
}