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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: 17-17270991-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17270991&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Supporting",
"PM2"
],
"effects": [
"start_lost"
],
"gene_symbol": "COPS3",
"hgnc_id": 2239,
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001316356.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Supporting,PM2",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.547,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "17",
"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": 0.3909671902656555,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 423,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 263,
"cds_end": null,
"cds_length": 1272,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003653.4",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268717.10",
"protein_coding": true,
"protein_id": "NP_003644.2",
"strand": false,
"transcript": "NM_003653.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 423,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 263,
"cds_end": null,
"cds_length": 1272,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000268717.10",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003653.4",
"protein_coding": true,
"protein_id": "ENSP00000268717.5",
"strand": false,
"transcript": "ENST00000268717.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 356,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1684,
"cdna_start": 133,
"cds_end": null,
"cds_length": 1071,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001316356.2",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303285.1",
"strand": false,
"transcript": "NM_001316356.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 298,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1510,
"cdna_start": 133,
"cds_end": null,
"cds_length": 897,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047436961.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292917.1",
"strand": false,
"transcript": "XM_047436961.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 423,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 285,
"cds_end": null,
"cds_length": 1272,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000954596.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624655.1",
"strand": false,
"transcript": "ENST00000954596.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 417,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1624,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1254,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000954594.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624653.1",
"strand": false,
"transcript": "ENST00000954594.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 411,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 263,
"cds_end": null,
"cds_length": 1236,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904397.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574456.1",
"strand": false,
"transcript": "ENST00000904397.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 403,
"aa_ref": "M",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 273,
"cds_end": null,
"cds_length": 1212,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001199125.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Met48Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186054.1",
"strand": false,
"transcript": "NM_001199125.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 403,
"aa_ref": "M",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1699,
"cdna_start": 352,
"cds_end": null,
"cds_length": 1212,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000539941.6",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Met48Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437606.2",
"strand": false,
"transcript": "ENST00000539941.6",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 401,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 286,
"cds_end": null,
"cds_length": 1206,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904394.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574453.1",
"strand": false,
"transcript": "ENST00000904394.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 396,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 263,
"cds_end": null,
"cds_length": 1191,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904395.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574454.1",
"strand": false,
"transcript": "ENST00000904395.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 394,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 299,
"cds_end": null,
"cds_length": 1185,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904392.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574451.1",
"strand": false,
"transcript": "ENST00000904392.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 392,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 279,
"cds_end": null,
"cds_length": 1179,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938832.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608891.1",
"strand": false,
"transcript": "ENST00000938832.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 385,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 263,
"cds_end": null,
"cds_length": 1158,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904396.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574455.1",
"strand": false,
"transcript": "ENST00000904396.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 376,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1131,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904393.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574452.1",
"strand": false,
"transcript": "ENST00000904393.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 367,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1353,
"cdna_start": 261,
"cds_end": null,
"cds_length": 1104,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938834.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608893.1",
"strand": false,
"transcript": "ENST00000938834.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 365,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 263,
"cds_end": null,
"cds_length": 1098,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001316355.2",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303284.1",
"strand": false,
"transcript": "NM_001316355.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 345,
"aa_ref": "M",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": 275,
"cds_end": null,
"cds_length": 1038,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000439936.6",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Met48Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413298.2",
"strand": false,
"transcript": "ENST00000439936.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 343,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 263,
"cds_end": null,
"cds_length": 1032,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904391.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574450.1",
"strand": false,
"transcript": "ENST00000904391.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 336,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1357,
"cdna_start": 286,
"cds_end": null,
"cds_length": 1011,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938833.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608892.1",
"strand": false,
"transcript": "ENST00000938833.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 318,
"aa_ref": "M",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 286,
"cds_end": null,
"cds_length": 957,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000954595.1",
"gene_hgnc_id": 2239,
"gene_symbol": "COPS3",
"hgvs_c": "c.203T>A",
"hgvs_p": "p.Met68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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