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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: X-129465529-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=129465529&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SMARCA1",
"hgnc_id": 11097,
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Arg1007Arg",
"inheritance_mode": "XL,Unknown",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_001282874.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_score": -9,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "X",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "R",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 3141,
"cds_end": null,
"cds_length": 3213,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001282874.2",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Arg1007Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371121.5",
"protein_coding": true,
"protein_id": "NP_001269803.1",
"strand": false,
"transcript": "NM_001282874.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "R",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 3141,
"cds_end": null,
"cds_length": 3213,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000371121.5",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Arg1007Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001282874.2",
"protein_coding": true,
"protein_id": "ENSP00000360162.4",
"strand": false,
"transcript": "ENST00000371121.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "R",
"aa_start": 995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 3100,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2985,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000371123.5",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.2985G>A",
"hgvs_p": "p.Arg995Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360164.2",
"strand": false,
"transcript": "ENST00000371123.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "R",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 3165,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000371122.8",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Arg1007Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360163.4",
"strand": false,
"transcript": "ENST00000371122.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "R",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": 3180,
"cds_end": null,
"cds_length": 3234,
"cds_start": 3042,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000950304.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.3042G>A",
"hgvs_p": "p.Arg1014Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620363.1",
"strand": false,
"transcript": "ENST00000950304.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "R",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": 3160,
"cds_end": null,
"cds_length": 3213,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000931469.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Arg1007Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601528.1",
"strand": false,
"transcript": "ENST00000931469.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "R",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 3189,
"cds_end": null,
"cds_length": 3213,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000950302.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Arg1007Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620361.1",
"strand": false,
"transcript": "ENST00000950302.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "R",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3887,
"cdna_start": 3294,
"cds_end": null,
"cds_length": 3213,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000950303.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Arg1007Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620362.1",
"strand": false,
"transcript": "ENST00000950303.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 3215,
"cds_end": null,
"cds_length": 3207,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000856438.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Arg1007Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526497.1",
"strand": false,
"transcript": "ENST00000856438.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "R",
"aa_start": 995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3953,
"cdna_start": 3105,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2985,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001282875.2",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.2985G>A",
"hgvs_p": "p.Arg995Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269804.1",
"strand": false,
"transcript": "NM_001282875.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "R",
"aa_start": 995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4035,
"cdna_start": 3184,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2985,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000950301.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.2985G>A",
"hgvs_p": "p.Arg995Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620360.1",
"strand": false,
"transcript": "ENST00000950301.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "R",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4088,
"cdna_start": 3141,
"cds_end": null,
"cds_length": 3165,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_003069.5",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Arg1007Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003060.2",
"strand": false,
"transcript": "NM_003069.5",
"transcript_support_level": null
},
{
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"aa_length": 1048,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4057,
"cdna_start": 3141,
"cds_end": null,
"cds_length": 3147,
"cds_start": 3021,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001378261.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Arg1007Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365190.1",
"strand": false,
"transcript": "NM_001378261.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": 3105,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2985,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001378262.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.2985G>A",
"hgvs_p": "p.Arg995Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365191.1",
"strand": false,
"transcript": "NM_001378262.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 3105,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2985,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001378263.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.2985G>A",
"hgvs_p": "p.Arg995Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365192.1",
"strand": false,
"transcript": "NM_001378263.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1041,
"aa_ref": "R",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 3099,
"cds_end": null,
"cds_length": 3126,
"cds_start": 2934,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000931472.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.2934G>A",
"hgvs_p": "p.Arg978Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601531.1",
"strand": false,
"transcript": "ENST00000931472.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1036,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4021,
"cdna_start": 3105,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2985,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001378264.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.2985G>A",
"hgvs_p": "p.Arg995Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365193.1",
"strand": false,
"transcript": "NM_001378264.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 3037,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2916,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000931471.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.2916G>A",
"hgvs_p": "p.Arg972Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601530.1",
"strand": false,
"transcript": "ENST00000931471.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 3031,
"cds_end": null,
"cds_length": 3102,
"cds_start": 2910,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000950305.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.2910G>A",
"hgvs_p": "p.Arg970Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620364.1",
"strand": false,
"transcript": "ENST00000950305.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "R",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": 3033,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2898,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000931470.1",
"gene_hgnc_id": 11097,
"gene_symbol": "SMARCA1",
"hgvs_c": "c.2898G>A",
"hgvs_p": "p.Arg966Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601529.1",
"strand": false,
"transcript": "ENST00000931470.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "R",
"aa_start": 963,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 3029,
"cds_end": null,
"cds_length": 3081,
"cds_start": 2889,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 22,
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