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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: X-2726261-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2726261&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "CD99",
"hgnc_id": 7082,
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ala121Ala",
"inheritance_mode": "BG",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_002414.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.08,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0800000429153442,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 185,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 429,
"cds_end": null,
"cds_length": 558,
"cds_start": 363,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_002414.5",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ala121Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381192.10",
"protein_coding": true,
"protein_id": "NP_002405.1",
"strand": true,
"transcript": "NM_002414.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 185,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 429,
"cds_end": null,
"cds_length": 558,
"cds_start": 363,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000381192.10",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ala121Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002414.5",
"protein_coding": true,
"protein_id": "ENSP00000370588.3",
"strand": true,
"transcript": "ENST00000381192.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 177,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 918,
"cdna_start": 444,
"cds_end": null,
"cds_length": 534,
"cds_start": 363,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000381184.6",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ala121Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370579.1",
"strand": true,
"transcript": "ENST00000381184.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 160,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": 537,
"cds_end": null,
"cds_length": 483,
"cds_start": 363,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000611428.5",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ala121Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479999.1",
"strand": true,
"transcript": "ENST00000611428.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 573,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000623253.4",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "n.363C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485545.1",
"strand": true,
"transcript": "ENST00000623253.4",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 187,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 516,
"cds_end": null,
"cds_length": 564,
"cds_start": 369,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863838.1",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.369C>G",
"hgvs_p": "p.Ala123Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533897.1",
"strand": true,
"transcript": "ENST00000863838.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 184,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1126,
"cdna_start": 429,
"cds_end": null,
"cds_length": 555,
"cds_start": 363,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001321368.2",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ala121Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308297.1",
"strand": true,
"transcript": "NM_001321368.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 184,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1089,
"cdna_start": 411,
"cds_end": null,
"cds_length": 555,
"cds_start": 363,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000624481.4",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.363C>G",
"hgvs_p": "p.Ala121Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485427.1",
"strand": true,
"transcript": "ENST00000624481.4",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 183,
"aa_ref": "A",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1201,
"cdna_start": 501,
"cds_end": null,
"cds_length": 552,
"cds_start": 357,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000928660.1",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.357C>G",
"hgvs_p": "p.Ala119Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598719.1",
"strand": true,
"transcript": "ENST00000928660.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 182,
"aa_ref": "A",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1185,
"cdna_start": 498,
"cds_end": null,
"cds_length": 549,
"cds_start": 354,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000957177.1",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.354C>G",
"hgvs_p": "p.Ala118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627236.1",
"strand": true,
"transcript": "ENST00000957177.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 181,
"aa_ref": "A",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 388,
"cds_end": null,
"cds_length": 546,
"cds_start": 351,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863844.1",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Ala117Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533903.1",
"strand": true,
"transcript": "ENST00000863844.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 179,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": 450,
"cds_end": null,
"cds_length": 540,
"cds_start": 345,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863839.1",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.345C>G",
"hgvs_p": "p.Ala115Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533898.1",
"strand": true,
"transcript": "ENST00000863839.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 173,
"aa_ref": "A",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 981,
"cdna_start": 365,
"cds_end": null,
"cds_length": 522,
"cds_start": 330,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863846.1",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ala110Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533905.1",
"strand": true,
"transcript": "ENST00000863846.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 171,
"aa_ref": "A",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 694,
"cds_end": null,
"cds_length": 516,
"cds_start": 321,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928650.1",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.321C>G",
"hgvs_p": "p.Ala107Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598710.1",
"strand": true,
"transcript": "ENST00000928650.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 169,
"aa_ref": "A",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1081,
"cdna_start": 381,
"cds_end": null,
"cds_length": 510,
"cds_start": 315,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001122898.3",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.315C>G",
"hgvs_p": "p.Ala105Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116370.1",
"strand": true,
"transcript": "NM_001122898.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 169,
"aa_ref": "A",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 892,
"cdna_start": 400,
"cds_end": null,
"cds_length": 510,
"cds_start": 315,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000381187.8",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.315C>G",
"hgvs_p": "p.Ala105Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370582.3",
"strand": true,
"transcript": "ENST00000381187.8",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 169,
"aa_ref": "A",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1029,
"cdna_start": 352,
"cds_end": null,
"cds_length": 510,
"cds_start": 315,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863842.1",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.315C>G",
"hgvs_p": "p.Ala105Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533901.1",
"strand": true,
"transcript": "ENST00000863842.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 168,
"aa_ref": "A",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 381,
"cds_end": null,
"cds_length": 507,
"cds_start": 315,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001321369.2",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.315C>G",
"hgvs_p": "p.Ala105Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308298.1",
"strand": true,
"transcript": "NM_001321369.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 168,
"aa_ref": "A",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 378,
"cds_end": null,
"cds_length": 507,
"cds_start": 312,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001321370.2",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.312C>G",
"hgvs_p": "p.Ala104Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308299.1",
"strand": true,
"transcript": "NM_001321370.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 168,
"aa_ref": "A",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1203,
"cdna_start": 506,
"cds_end": null,
"cds_length": 507,
"cds_start": 315,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863832.1",
"gene_hgnc_id": 7082,
"gene_symbol": "CD99",
"hgvs_c": "c.315C>G",
"hgvs_p": "p.Ala105Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533891.1",
"strand": true,
"transcript": "ENST00000863832.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 168,
"aa_ref": "A",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1161,
"cdna_start": 461,
"cds_end": null,
"cds_length": 507,
"cds_start": 312,
"consequences": [
"splice_region_variant",
"synonymous_variant"
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"pathogenicity_classification_combined": null,
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"phylop100way_prediction": "Benign",
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"splice_prediction_selected": "Benign",
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"transcript": "NM_002414.5"
}
]
}