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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: 7-140351332-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140351332&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC37A3",
"hgnc_id": 20651,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_207113.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0703,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "7",
"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": 0.047301024198532104,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1485,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_207113.3",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326232.14",
"protein_coding": true,
"protein_id": "NP_996996.1",
"strand": false,
"transcript": "NM_207113.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1485,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000326232.14",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_207113.3",
"protein_coding": true,
"protein_id": "ENSP00000321498.9",
"strand": false,
"transcript": "ENST00000326232.14",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 478,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1437,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000447932.6",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397481.2",
"strand": false,
"transcript": "ENST00000447932.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1332,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000340308.7",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343358.3",
"strand": false,
"transcript": "ENST00000340308.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1485,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904342.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574401.1",
"strand": false,
"transcript": "ENST00000904342.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1485,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000904343.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574402.1",
"strand": false,
"transcript": "ENST00000904343.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1485,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000904344.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574403.1",
"strand": false,
"transcript": "ENST00000904344.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1485,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937917.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607976.1",
"strand": false,
"transcript": "ENST00000937917.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1485,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000937918.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607977.1",
"strand": false,
"transcript": "ENST00000937918.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 494,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1485,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000952705.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622764.1",
"strand": false,
"transcript": "ENST00000952705.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1482,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001363373.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350302.1",
"strand": false,
"transcript": "NM_001363373.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 493,
"aa_ref": "V",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3301,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1482,
"cds_start": 820,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937913.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Val274Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607972.1",
"strand": false,
"transcript": "ENST00000937913.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_length": 3282,
"cdna_start": 1008,
"cds_end": null,
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"cds_start": 823,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001287498.2",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274427.1",
"strand": false,
"transcript": "NM_001287498.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 477,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1434,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001363374.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350303.1",
"strand": false,
"transcript": "NM_001363374.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 466,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1401,
"cds_start": 739,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000904341.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Val247Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574400.1",
"strand": false,
"transcript": "ENST00000904341.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 463,
"aa_ref": "V",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3221,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1392,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000937911.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Val244Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607970.1",
"strand": false,
"transcript": "ENST00000937911.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1347,
"cds_start": 823,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937915.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607974.1",
"strand": false,
"transcript": "ENST00000937915.1",
"transcript_support_level": null
},
{
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"aa_length": 443,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1332,
"cds_start": 823,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_032295.4",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115671.1",
"strand": false,
"transcript": "NM_032295.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 435,
"aa_ref": "V",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1308,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000937914.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Val216Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607973.1",
"strand": false,
"transcript": "ENST00000937914.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 413,
"aa_ref": "V",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1242,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001363375.1",
"gene_hgnc_id": 20651,
"gene_symbol": "SLC37A3",
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Val194Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350304.1",
"strand": false,
"transcript": "NM_001363375.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 385,
"aa_ref": "V",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1158,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
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]
}