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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: 10-67180378-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=67180378&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CTNNA3",
"hgnc_id": 2511,
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Ile329Thr",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_013266.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 34,
"alphamissense_prediction": null,
"alphamissense_score": 0.6243,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 13",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5555724501609802,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 895,
"aa_ref": "I",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10696,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 2688,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_013266.4",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Ile329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000433211.7",
"protein_coding": true,
"protein_id": "NP_037398.2",
"strand": false,
"transcript": "NM_013266.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 895,
"aa_ref": "I",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10696,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 2688,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000433211.7",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Ile329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013266.4",
"protein_coding": true,
"protein_id": "ENSP00000389714.1",
"strand": false,
"transcript": "ENST00000433211.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 895,
"aa_ref": "I",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10620,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 2688,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001127384.3",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Ile329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120856.1",
"strand": false,
"transcript": "NM_001127384.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 895,
"aa_ref": "I",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10763,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 2688,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000682758.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Ile329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508047.1",
"strand": false,
"transcript": "ENST00000682758.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 895,
"aa_ref": "I",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10766,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 2688,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684154.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Ile329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508371.1",
"strand": false,
"transcript": "ENST00000684154.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 828,
"aa_ref": "I",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4919,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 2487,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000682945.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Ile329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506843.1",
"strand": false,
"transcript": "ENST00000682945.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 388,
"aa_ref": "I",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2744,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001291133.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1022T>C",
"hgvs_p": "p.Ile341Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278062.1",
"strand": false,
"transcript": "NM_001291133.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 126,
"aa_ref": "I",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 470,
"cdna_start": 66,
"cds_end": null,
"cds_length": 381,
"cds_start": 65,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000494580.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.65T>C",
"hgvs_p": "p.Ile22Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477144.1",
"strand": false,
"transcript": "ENST00000494580.1",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 970,
"aa_ref": "I",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10962,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 2913,
"cds_start": 1091,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017016152.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1091T>C",
"hgvs_p": "p.Ile364Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871641.1",
"strand": false,
"transcript": "XM_017016152.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 918,
"aa_ref": "I",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10689,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 2757,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017016151.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1055T>C",
"hgvs_p": "p.Ile352Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871640.1",
"strand": false,
"transcript": "XM_017016151.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 907,
"aa_ref": "I",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10738,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 2724,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047425124.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1022T>C",
"hgvs_p": "p.Ile341Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281080.1",
"strand": false,
"transcript": "XM_047425124.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 634,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10075,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1905,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017016155.3",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Ile68Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871644.1",
"strand": false,
"transcript": "XM_017016155.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 634,
"aa_ref": "I",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10012,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1905,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017016156.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.203T>C",
"hgvs_p": "p.Ile68Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871645.1",
"strand": false,
"transcript": "XM_017016156.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 388,
"aa_ref": "I",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1022,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017016158.3",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1022T>C",
"hgvs_p": "p.Ile341Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871647.1",
"strand": false,
"transcript": "XM_017016158.3",
"transcript_support_level": null
},
{
"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": 966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000545309.3",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.*682T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441444.3",
"strand": false,
"transcript": "ENST00000545309.3",
"transcript_support_level": 5
},
{
"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": 2536,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000682166.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.*682T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507319.1",
"strand": false,
"transcript": "ENST00000682166.1",
"transcript_support_level": null
},
{
"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": 2056,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000683272.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.1180T>C",
"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": "ENST00000683272.1",
"transcript_support_level": null
},
{
"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": 2317,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000683624.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.*682T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507406.1",
"strand": false,
"transcript": "ENST00000683624.1",
"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": 2022,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000683630.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.1180T>C",
"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": "ENST00000683630.1",
"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": 733,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000683771.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.511T>C",
"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": "ENST00000683771.1",
"transcript_support_level": null
},
{
"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": 10517,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000683963.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.*510T>C",
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}