← Back to variant description
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: 1-3649961-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3649961&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "WRAP73",
"hgnc_id": 12759,
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_017818.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1383,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_017818.4",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000270708.12",
"protein_coding": true,
"protein_id": "NP_060288.3",
"strand": false,
"transcript": "NM_017818.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1383,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000270708.12",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017818.4",
"protein_coding": true,
"protein_id": "ENSP00000270708.7",
"strand": false,
"transcript": "ENST00000270708.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 435,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 98,
"cds_end": null,
"cds_length": 1308,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000378322.7",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367573.3",
"strand": false,
"transcript": "ENST00000378322.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 456,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 136,
"cds_end": null,
"cds_length": 1371,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960493.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630552.1",
"strand": false,
"transcript": "ENST00000960493.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 453,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 150,
"cds_end": null,
"cds_length": 1362,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855126.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525185.1",
"strand": false,
"transcript": "ENST00000855126.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1560,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1257,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960492.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630551.1",
"strand": false,
"transcript": "ENST00000960492.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 409,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 113,
"cds_end": null,
"cds_length": 1230,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855130.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525189.1",
"strand": false,
"transcript": "ENST00000855130.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 408,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1543,
"cdna_start": 150,
"cds_end": null,
"cds_length": 1227,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855127.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525186.1",
"strand": false,
"transcript": "ENST00000855127.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 386,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": 92,
"cds_end": null,
"cds_length": 1161,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920581.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590640.1",
"strand": false,
"transcript": "ENST00000920581.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 370,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1413,
"cdna_start": 134,
"cds_end": null,
"cds_length": 1113,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920579.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590638.1",
"strand": false,
"transcript": "ENST00000920579.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 363,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1366,
"cdna_start": 113,
"cds_end": null,
"cds_length": 1092,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920580.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590639.1",
"strand": false,
"transcript": "ENST00000920580.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 360,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1370,
"cdna_start": 123,
"cds_end": null,
"cds_length": 1083,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960494.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630553.1",
"strand": false,
"transcript": "ENST00000960494.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 325,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": 143,
"cds_end": null,
"cds_length": 978,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000855129.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525188.1",
"strand": false,
"transcript": "ENST00000855129.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 303,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 940,
"cdna_start": 66,
"cds_end": null,
"cds_length": 913,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000424367.5",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416192.1",
"strand": false,
"transcript": "ENST00000424367.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 178,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": 103,
"cds_end": null,
"cds_length": 539,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000419924.2",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389738.2",
"strand": false,
"transcript": "ENST00000419924.2",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 453,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1362,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017001387.3",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856876.1",
"strand": false,
"transcript": "XM_017001387.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 415,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1248,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005244754.3",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005244811.1",
"strand": false,
"transcript": "XM_005244754.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 408,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1227,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047421661.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277617.1",
"strand": false,
"transcript": "XM_047421661.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 366,
"aa_ref": "L",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1101,
"cds_start": 39,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047421663.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.39C>T",
"hgvs_p": "p.Leu13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277619.1",
"strand": false,
"transcript": "XM_047421663.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": null,
"cds_end": null,
"cds_length": 1329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855128.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.15+24C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525187.1",
"strand": false,
"transcript": "ENST00000855128.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 199,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 779,
"cdna_start": null,
"cds_end": null,
"cds_length": 601,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000465916.5",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "c.-129-2401C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463084.1",
"strand": false,
"transcript": "ENST00000465916.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 446,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000479331.1",
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"hgvs_c": "n.101C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000479331.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs12040834",
"effect": "synonymous_variant",
"frequency_reference_population": 6.890773e-7,
"gene_hgnc_id": 12759,
"gene_symbol": "WRAP73",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.89077e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.076,
"pos": 3649961,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.17000000178813934,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.17,
"transcript": "NM_017818.4"
}
]
}