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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: 6-87524643-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87524643&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RARS2",
"hgnc_id": 21406,
"hgvs_c": "c.888G>C",
"hgvs_p": "p.Thr296Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001350505.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_score": -10,
"allele_count_reference_population": 1727,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "6",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Pontocerebellar hypoplasia type 6,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.550000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 578,
"aa_ref": "T",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1737,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_020320.5",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.888G>C",
"hgvs_p": "p.Thr296Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369536.10",
"protein_coding": true,
"protein_id": "NP_064716.2",
"strand": false,
"transcript": "NM_020320.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 578,
"aa_ref": "T",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1737,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000369536.10",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.888G>C",
"hgvs_p": "p.Thr296Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020320.5",
"protein_coding": true,
"protein_id": "ENSP00000358549.5",
"strand": false,
"transcript": "ENST00000369536.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "T",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1827,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000687437.1",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.888G>C",
"hgvs_p": "p.Thr296Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508968.1",
"strand": false,
"transcript": "ENST00000687437.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 588,
"aa_ref": "T",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1767,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350505.2",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.888G>C",
"hgvs_p": "p.Thr296Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337434.1",
"strand": false,
"transcript": "NM_001350505.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 588,
"aa_ref": "T",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1767,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000691725.1",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.888G>C",
"hgvs_p": "p.Thr296Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509453.1",
"strand": false,
"transcript": "ENST00000691725.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 583,
"aa_ref": "T",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1752,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000879834.1",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.888G>C",
"hgvs_p": "p.Thr296Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549893.1",
"strand": false,
"transcript": "ENST00000879834.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 441,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1326,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000451155.2",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389656.2",
"strand": false,
"transcript": "ENST00000451155.2",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 413,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1242,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350506.2",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337435.1",
"strand": false,
"transcript": "NM_001350506.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 413,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 1242,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000693431.1",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509147.1",
"strand": false,
"transcript": "ENST00000693431.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1212,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001318785.2",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305714.1",
"strand": false,
"transcript": "NM_001318785.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1212,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001350507.2",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337436.1",
"strand": false,
"transcript": "NM_001350507.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1212,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001350508.2",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337437.1",
"strand": false,
"transcript": "NM_001350508.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1212,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001350509.2",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337438.1",
"strand": false,
"transcript": "NM_001350509.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1212,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350510.2",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337439.1",
"strand": false,
"transcript": "NM_001350510.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2582,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1212,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001350511.2",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337440.1",
"strand": false,
"transcript": "NM_001350511.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1212,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000685408.1",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509026.1",
"strand": false,
"transcript": "ENST00000685408.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1212,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000689174.1",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510542.1",
"strand": false,
"transcript": "ENST00000689174.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": 2022,
"cds_end": null,
"cds_length": 1212,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000692684.1",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509712.1",
"strand": false,
"transcript": "ENST00000692684.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1212,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000693327.1",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509195.1",
"strand": false,
"transcript": "ENST00000693327.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 384,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1155,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000687729.1",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508582.1",
"strand": false,
"transcript": "ENST00000687729.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 502,
"aa_ref": "T",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1509,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011535949.4",
"gene_hgnc_id": 21406,
"gene_symbol": "RARS2",
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