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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: 11-76544468-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76544468&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EMSY",
"hgnc_id": 18071,
"hgvs_c": "c.2964G>A",
"hgvs_p": "p.Gln988Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001300942.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 788,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "Q",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7049,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 4014,
"cds_start": 2964,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001300942.2",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2964G>A",
"hgvs_p": "p.Gln988Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000695367.1",
"protein_coding": true,
"protein_id": "NP_001287871.1",
"strand": true,
"transcript": "NM_001300942.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "Q",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7049,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 4014,
"cds_start": 2964,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000695367.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2964G>A",
"hgvs_p": "p.Gln988Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001300942.2",
"protein_coding": true,
"protein_id": "ENSP00000511840.1",
"strand": true,
"transcript": "ENST00000695367.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "Q",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4116,
"cdna_start": 3003,
"cds_end": null,
"cds_length": 4014,
"cds_start": 2964,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000524767.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2964G>A",
"hgvs_p": "p.Gln988Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433205.1",
"strand": true,
"transcript": "ENST00000524767.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "Q",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": 2961,
"cds_end": null,
"cds_length": 3972,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000525038.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2922G>A",
"hgvs_p": "p.Gln974Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436968.1",
"strand": true,
"transcript": "ENST00000525038.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "Q",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": 2961,
"cds_end": null,
"cds_length": 3972,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000525919.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2922G>A",
"hgvs_p": "p.Gln974Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432010.1",
"strand": true,
"transcript": "ENST00000525919.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "Q",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6848,
"cdna_start": 2919,
"cds_end": null,
"cds_length": 3969,
"cds_start": 2919,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000529032.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2919G>A",
"hgvs_p": "p.Gln973Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432327.1",
"strand": true,
"transcript": "ENST00000529032.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "Q",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3798,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 3696,
"cds_start": 2646,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000533248.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2646G>A",
"hgvs_p": "p.Gln882Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433634.1",
"strand": true,
"transcript": "ENST00000533248.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 295,
"aa_ref": "Q",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 339,
"cds_end": null,
"cds_length": 888,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000532719.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Gln113Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436528.1",
"strand": true,
"transcript": "ENST00000532719.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "Q",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4329,
"cdna_start": 3056,
"cds_end": null,
"cds_length": 4020,
"cds_start": 2970,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000884915.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2970G>A",
"hgvs_p": "p.Gln990Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554974.1",
"strand": true,
"transcript": "ENST00000884915.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "Q",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4385,
"cdna_start": 3111,
"cds_end": null,
"cds_length": 4011,
"cds_start": 2961,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000884905.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2961G>A",
"hgvs_p": "p.Gln987Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554964.1",
"strand": true,
"transcript": "ENST00000884905.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1325,
"aa_ref": "Q",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 3080,
"cds_end": null,
"cds_length": 3978,
"cds_start": 2928,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000884904.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2928G>A",
"hgvs_p": "p.Gln976Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554963.1",
"strand": true,
"transcript": "ENST00000884904.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "Q",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7007,
"cdna_start": 3072,
"cds_end": null,
"cds_length": 3972,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001300943.2",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2922G>A",
"hgvs_p": "p.Gln974Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287872.1",
"strand": true,
"transcript": "NM_001300943.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1323,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7007,
"cdna_start": 3072,
"cds_end": null,
"cds_length": 3972,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001300944.2",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2922G>A",
"hgvs_p": "p.Gln974Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287873.1",
"strand": true,
"transcript": "NM_001300944.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "Q",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7004,
"cdna_start": 3069,
"cds_end": null,
"cds_length": 3969,
"cds_start": 2919,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_020193.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2919G>A",
"hgvs_p": "p.Gln973Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_064578.2",
"strand": true,
"transcript": "NM_020193.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1322,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 3062,
"cds_end": null,
"cds_length": 3969,
"cds_start": 2919,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000334736.7",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2919G>A",
"hgvs_p": "p.Gln973Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334130.3",
"strand": true,
"transcript": "ENST00000334736.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1309,
"aa_ref": "Q",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": 3030,
"cds_end": null,
"cds_length": 3930,
"cds_start": 2880,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000884897.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2880G>A",
"hgvs_p": "p.Gln960Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554956.1",
"strand": true,
"transcript": "ENST00000884897.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1308,
"aa_ref": "Q",
"aa_start": 959,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4300,
"cdna_start": 3027,
"cds_end": null,
"cds_length": 3927,
"cds_start": 2877,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000884907.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2877G>A",
"hgvs_p": "p.Gln959Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554966.1",
"strand": true,
"transcript": "ENST00000884907.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1293,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5992,
"cdna_start": 3113,
"cds_end": null,
"cds_length": 3882,
"cds_start": 2832,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000884895.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Gln944Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554954.1",
"strand": true,
"transcript": "ENST00000884895.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1286,
"aa_ref": "Q",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": 2954,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2811,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000884900.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2811G>A",
"hgvs_p": "p.Gln937Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554959.1",
"strand": true,
"transcript": "ENST00000884900.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "Q",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4984,
"cdna_start": 2930,
"cds_end": null,
"cds_length": 3819,
"cds_start": 2769,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000884896.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.2769G>A",
"hgvs_p": "p.Gln923Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554955.1",
"strand": true,
"transcript": "ENST00000884896.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1268,
"aa_ref": "Q",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 2912,
"cds_end": null,
"cds_length": 3807,
"cds_start": 2757,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
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