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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: 22-30019748-ACC-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30019748&ref=ACC&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MTMR3",
"hgnc_id": 7451,
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_021090.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "HORMAD2-AS1",
"hgnc_id": 50729,
"hgvs_c": "n.416-1021_416-1019delGGTinsCGC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000429350.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "T",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8987,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 3597,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021090.4",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000401950.7",
"protein_coding": true,
"protein_id": "NP_066576.1",
"strand": true,
"transcript": "NM_021090.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "T",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8987,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 3597,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000401950.7",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021090.4",
"protein_coding": true,
"protein_id": "ENSP00000384651.3",
"strand": true,
"transcript": "ENST00000401950.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1161,
"aa_ref": "T",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4464,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 3486,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000351488.7",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307271.6",
"strand": true,
"transcript": "ENST00000351488.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "T",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4088,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 3699,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956491.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2191_2193delACCinsGCG",
"hgvs_p": "p.Thr731Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626550.1",
"strand": true,
"transcript": "ENST00000956491.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "T",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9017,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 3624,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908090.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578149.1",
"strand": true,
"transcript": "ENST00000908090.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "T",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6103,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 3624,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908091.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578150.1",
"strand": true,
"transcript": "ENST00000908091.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "T",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5961,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 3621,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956489.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626548.1",
"strand": true,
"transcript": "ENST00000956489.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 1204,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5995,
"cdna_start": 2514,
"cds_end": null,
"cds_length": 3615,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956488.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2191_2193delACCinsGCG",
"hgvs_p": "p.Thr731Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626547.1",
"strand": true,
"transcript": "ENST00000956488.1",
"transcript_support_level": null
},
{
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"aa_length": 1198,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4286,
"cdna_start": 2531,
"cds_end": null,
"cds_length": 3597,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908094.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578153.1",
"strand": true,
"transcript": "ENST00000908094.1",
"transcript_support_level": null
},
{
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"aa_length": 1198,
"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_start": 2528,
"cds_end": null,
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908095.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578154.1",
"strand": true,
"transcript": "ENST00000908095.1",
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},
{
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"cdna_start": 2619,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000908096.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
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"mane_plus": null,
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"protein_coding": true,
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"transcript": "ENST00000908096.1",
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},
{
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"cds_end": null,
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],
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"feature": "ENST00000908097.1",
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"hgvs_c": "c.2089_2091delACCinsGCG",
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"mane_plus": null,
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"protein_coding": true,
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"transcript": "ENST00000908097.1",
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},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_start": 2412,
"cds_end": null,
"cds_length": 3513,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153050.3",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_694690.1",
"strand": true,
"transcript": "NM_153050.3",
"transcript_support_level": null
},
{
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],
"exon_count": 20,
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"feature": "ENST00000333027.7",
"gene_hgnc_id": 7451,
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"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000331649.3",
"strand": true,
"transcript": "ENST00000333027.7",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_start": 2098,
"cds_end": null,
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"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000406629.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000384077.1",
"strand": true,
"transcript": "ENST00000406629.1",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_length": 8876,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 3486,
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153051.3",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_694691.1",
"strand": true,
"transcript": "NM_153051.3",
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},
{
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"feature": "ENST00000940445.1",
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},
{
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"aa_ref": "T",
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"cdna_start": 2271,
"cds_end": null,
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000908093.1",
"gene_hgnc_id": 7451,
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"hgvs_c": "c.1975_1977delACCinsGCG",
"hgvs_p": "p.Thr659Ala",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578152.1",
"strand": true,
"transcript": "ENST00000908093.1",
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},
{
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"cdna_start": 2358,
"cds_end": null,
"cds_length": 3462,
"cds_start": 2065,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908092.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2065_2067delACCinsGCG",
"hgvs_p": "p.Thr689Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578151.1",
"strand": true,
"transcript": "ENST00000908092.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 1152,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 3459,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956490.1",
"gene_hgnc_id": 7451,
"gene_symbol": "MTMR3",
"hgvs_c": "c.2089_2091delACCinsGCG",
"hgvs_p": "p.Thr697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626549.1",
"strand": true,
"transcript": "ENST00000956490.1",
"transcript_support_level": null
},
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