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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: 5-138932589-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138932589&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138932589,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000302763.12",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Ser770Ser",
"transcript": "NM_001903.5",
"protein_id": "NP_001894.2",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 906,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "ENST00000302763.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Ser770Ser",
"transcript": "ENST00000302763.12",
"protein_id": "ENSP00000304669.7",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 906,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "NM_001903.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Ser770Ser",
"transcript": "ENST00000518825.5",
"protein_id": "ENSP00000427821.1",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 841,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Ser400Ser",
"transcript": "ENST00000540387.5",
"protein_id": "ENSP00000438476.1",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 536,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Ser770Ser",
"transcript": "NM_001323982.2",
"protein_id": "NP_001310911.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 906,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2868,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Ser770Ser",
"transcript": "NM_001323983.1",
"protein_id": "NP_001310912.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 906,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2589,
"cdna_end": null,
"cdna_length": 3945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Ser770Ser",
"transcript": "NM_001323984.2",
"protein_id": "NP_001310913.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 906,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Ser770Ser",
"transcript": "NM_001323985.2",
"protein_id": "NP_001310914.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 897,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2217G>C",
"hgvs_p": "p.Ser739Ser",
"transcript": "NM_001323986.2",
"protein_id": "NP_001310915.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 875,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Ser770Ser",
"transcript": "NM_001290307.3",
"protein_id": "NP_001277236.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 841,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Ser770Ser",
"transcript": "ENST00000627109.2",
"protein_id": "ENSP00000486200.1",
"transcript_support_level": 5,
"aa_start": 770,
"aa_end": null,
"aa_length": 841,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Ser667Ser",
"transcript": "NM_001290309.3",
"protein_id": "NP_001277238.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 803,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1941G>C",
"hgvs_p": "p.Ser647Ser",
"transcript": "NM_001290310.3",
"protein_id": "NP_001277239.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 783,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Ser400Ser",
"transcript": "NM_001290312.1",
"protein_id": "NP_001277241.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 536,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Ser400Ser",
"transcript": "NM_001323987.1",
"protein_id": "NP_001310916.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 536,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Ser400Ser",
"transcript": "NM_001323988.1",
"protein_id": "NP_001310917.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 536,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Ser400Ser",
"transcript": "NM_001323989.1",
"protein_id": "NP_001310918.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 536,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Ser400Ser",
"transcript": "NM_001323990.1",
"protein_id": "NP_001310919.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 536,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Ser400Ser",
"transcript": "NM_001323991.1",
"protein_id": "NP_001310920.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 536,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Ser400Ser",
"transcript": "NM_001323992.1",
"protein_id": "NP_001310921.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 536,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Ser400Ser",
"transcript": "NM_001323993.1",
"protein_id": "NP_001310922.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 536,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
"hgvs_p": "p.Ser400Ser",
"transcript": "NM_001323994.1",
"protein_id": "NP_001310923.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 536,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1200G>C",
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"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000302763.12",
"gene_symbol": "CTNNA1",
"hgnc_id": 2509,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Ser770Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}