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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: 15-60502847-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=60502847&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RORA",
"hgnc_id": 10258,
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Ile399Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_134260.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RORA-AS1",
"hgnc_id": 51410,
"hgvs_c": "n.317-7561T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000558140.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0819,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15618857741355896,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 523,
"aa_ref": "I",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10827,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_134261.3",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.1096A>G",
"hgvs_p": "p.Ile366Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335670.11",
"protein_coding": true,
"protein_id": "NP_599023.1",
"strand": false,
"transcript": "NM_134261.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 523,
"aa_ref": "I",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10827,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000335670.11",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.1096A>G",
"hgvs_p": "p.Ile366Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_134261.3",
"protein_coding": true,
"protein_id": "ENSP00000335087.6",
"strand": false,
"transcript": "ENST00000335670.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 556,
"aa_ref": "I",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000261523.9",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Ile399Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261523.5",
"strand": false,
"transcript": "ENST00000261523.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 548,
"aa_ref": "I",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 1241,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000309157.8",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.1171A>G",
"hgvs_p": "p.Ile391Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000309753.3",
"strand": false,
"transcript": "ENST00000309157.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 468,
"aa_ref": "I",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1701,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1407,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000449337.6",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.931A>G",
"hgvs_p": "p.Ile311Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402971.2",
"strand": false,
"transcript": "ENST00000449337.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 556,
"aa_ref": "I",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10998,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_134260.3",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Ile399Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_599022.1",
"strand": false,
"transcript": "NM_134260.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 548,
"aa_ref": "I",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10974,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_002943.4",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.1171A>G",
"hgvs_p": "p.Ile391Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002934.1",
"strand": false,
"transcript": "NM_002943.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 468,
"aa_ref": "I",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10687,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 1407,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_134262.3",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.931A>G",
"hgvs_p": "p.Ile311Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_599024.1",
"strand": false,
"transcript": "NM_134262.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 525,
"aa_ref": "I",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10839,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011521874.2",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Ile368Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520176.1",
"strand": false,
"transcript": "XM_011521874.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 504,
"aa_ref": "I",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10910,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011521875.3",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.1039A>G",
"hgvs_p": "p.Ile347Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520177.1",
"strand": false,
"transcript": "XM_011521875.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 467,
"aa_ref": "I",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11982,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 1404,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011521877.4",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Ile310Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520179.1",
"strand": false,
"transcript": "XM_011521877.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 386,
"aa_ref": "I",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12333,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 1161,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047432928.1",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ile229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288884.1",
"strand": false,
"transcript": "XM_047432928.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 386,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10942,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1161,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047432929.1",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ile229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288885.1",
"strand": false,
"transcript": "XM_047432929.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 386,
"aa_ref": "I",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10833,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1161,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047432930.1",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Ile229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288886.1",
"strand": false,
"transcript": "XM_047432930.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 376,
"aa_ref": "I",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10387,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1131,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011521879.4",
"gene_hgnc_id": 10258,
"gene_symbol": "RORA",
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Ile219Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520181.1",
"strand": false,
"transcript": "XM_011521879.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 972,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000501579.7",
"gene_hgnc_id": 51410,
"gene_symbol": "RORA-AS1",
"hgvs_c": "n.316-7561T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000501579.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 938,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558140.7",
"gene_hgnc_id": 51410,
"gene_symbol": "RORA-AS1",
"hgvs_c": "n.317-7561T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000558140.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558235.5",
"gene_hgnc_id": 51410,
"gene_symbol": "RORA-AS1",
"hgvs_c": "n.193-7561T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000558235.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 761,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559824.5",
"gene_hgnc_id": 51410,
"gene_symbol": "RORA-AS1",
"hgvs_c": "n.290-7561T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000559824.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 890,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000660694.1",
"gene_hgnc_id": 51410,
"gene_symbol": "RORA-AS1",
"hgvs_c": "n.314-7561T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000660694.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 857,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
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