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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: 11-22272805-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=22272805&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANO5",
"hgnc_id": 27337,
"hgvs_c": "c.2051C>T",
"hgvs_p": "p.Thr684Ile",
"inheritance_mode": "AD,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_213599.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9425,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2L,Gnathodiaphyseal dysplasia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9078766703605652,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 913,
"aa_ref": "T",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6742,
"cdna_start": 2459,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_213599.3",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.2051C>T",
"hgvs_p": "p.Thr684Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324559.9",
"protein_coding": true,
"protein_id": "NP_998764.1",
"strand": true,
"transcript": "NM_213599.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 913,
"aa_ref": "T",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6742,
"cdna_start": 2459,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000324559.9",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.2051C>T",
"hgvs_p": "p.Thr684Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_213599.3",
"protein_coding": true,
"protein_id": "ENSP00000315371.9",
"strand": true,
"transcript": "ENST00000324559.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 912,
"aa_ref": "T",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 2456,
"cds_end": null,
"cds_length": 2739,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001142649.2",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Thr683Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136121.1",
"strand": true,
"transcript": "NM_001142649.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 899,
"aa_ref": "T",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6700,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001410963.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Thr670Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397892.1",
"strand": true,
"transcript": "NM_001410963.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 899,
"aa_ref": "T",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000682341.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Thr670Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508251.1",
"strand": true,
"transcript": "ENST00000682341.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 898,
"aa_ref": "T",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6697,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001410964.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.2006C>T",
"hgvs_p": "p.Thr669Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397893.1",
"strand": true,
"transcript": "NM_001410964.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 898,
"aa_ref": "T",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6947,
"cdna_start": 2454,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000684663.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.2006C>T",
"hgvs_p": "p.Thr669Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508009.1",
"strand": true,
"transcript": "ENST00000684663.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 887,
"aa_ref": "T",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6569,
"cdna_start": 2286,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001441294.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1973C>T",
"hgvs_p": "p.Thr658Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428223.1",
"strand": true,
"transcript": "NM_001441294.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 886,
"aa_ref": "T",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6566,
"cdna_start": 2283,
"cds_end": null,
"cds_length": 2661,
"cds_start": 1970,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001441295.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1970C>T",
"hgvs_p": "p.Thr657Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428224.1",
"strand": true,
"transcript": "NM_001441295.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 882,
"aa_ref": "T",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6649,
"cdna_start": 2366,
"cds_end": null,
"cds_length": 2649,
"cds_start": 1958,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001441296.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Thr653Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428225.1",
"strand": true,
"transcript": "NM_001441296.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 875,
"aa_ref": "T",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6642,
"cdna_start": 2360,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1937,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000950081.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1937C>T",
"hgvs_p": "p.Thr646Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620140.1",
"strand": true,
"transcript": "ENST00000950081.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 873,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6527,
"cdna_start": 2244,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1931,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001441297.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Thr644Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428226.1",
"strand": true,
"transcript": "NM_001441297.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6586,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 2586,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001441298.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1895C>T",
"hgvs_p": "p.Thr632Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428227.1",
"strand": true,
"transcript": "NM_001441298.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 861,
"aa_ref": "T",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4172,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2586,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000878905.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1895C>T",
"hgvs_p": "p.Thr632Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548964.1",
"strand": true,
"transcript": "ENST00000878905.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6583,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001441299.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1892C>T",
"hgvs_p": "p.Thr631Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428228.1",
"strand": true,
"transcript": "NM_001441299.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 860,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6011,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000878904.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1892C>T",
"hgvs_p": "p.Thr631Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548963.1",
"strand": true,
"transcript": "ENST00000878904.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 795,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2327,
"cds_end": null,
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"cds_start": 2009,
"consequences": [
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],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000683197.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Thr670Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507641.1",
"strand": true,
"transcript": "ENST00000683197.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5764,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950082.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1694C>T",
"hgvs_p": "p.Thr565Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620141.1",
"strand": true,
"transcript": "ENST00000950082.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 768,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6307,
"cdna_start": 2024,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001441300.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Thr539Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428229.1",
"strand": true,
"transcript": "NM_001441300.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 768,
"aa_ref": "T",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5677,
"cdna_start": 2024,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000939029.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Thr539Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609088.1",
"strand": true,
"transcript": "ENST00000939029.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 767,
"aa_ref": "T",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 2304,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 19,
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