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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: 10-124400865-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=124400865&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "OAT",
"hgnc_id": 8091,
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_000274.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 618593,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "Ornithine aminotransferase deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000274.4",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368845.6",
"protein_coding": true,
"protein_id": "NP_000265.1",
"strand": false,
"transcript": "NM_000274.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000368845.6",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000274.4",
"protein_coding": true,
"protein_id": "ENSP00000357838.5",
"strand": false,
"transcript": "ENST00000368845.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 301,
"aa_ref": "N",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 906,
"cds_start": 720,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000539214.5",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Asn240Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439042.1",
"strand": false,
"transcript": "ENST00000539214.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 440,
"aa_ref": "N",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1137,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000921313.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1137C>T",
"hgvs_p": "p.Asn379Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591372.1",
"strand": false,
"transcript": "ENST00000921313.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001322965.2",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309894.1",
"strand": false,
"transcript": "NM_001322965.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001322966.2",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309895.1",
"strand": false,
"transcript": "NM_001322966.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001322967.2",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309896.1",
"strand": false,
"transcript": "NM_001322967.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001322968.2",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309897.1",
"strand": false,
"transcript": "NM_001322968.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001322969.2",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309898.1",
"strand": false,
"transcript": "NM_001322969.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001322970.2",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309899.1",
"strand": false,
"transcript": "NM_001322970.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000858831.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528890.1",
"strand": false,
"transcript": "ENST00000858831.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000858833.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528892.1",
"strand": false,
"transcript": "ENST00000858833.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000858834.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528893.1",
"strand": false,
"transcript": "ENST00000858834.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000858835.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528894.1",
"strand": false,
"transcript": "ENST00000858835.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000858836.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528895.1",
"strand": false,
"transcript": "ENST00000858836.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000858838.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528897.1",
"strand": false,
"transcript": "ENST00000858838.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000858839.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528898.1",
"strand": false,
"transcript": "ENST00000858839.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000858840.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528899.1",
"strand": false,
"transcript": "ENST00000858840.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 1256,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000921311.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591370.1",
"strand": false,
"transcript": "ENST00000921311.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000921312.1",
"gene_hgnc_id": 8091,
"gene_symbol": "OAT",
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Asn378Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591371.1",
"strand": false,
"transcript": "ENST00000921312.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 439,
"aa_ref": "N",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1134,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000921315.1",
"gene_hgnc_id": 8091,
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