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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: 11-22276180-CCTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=22276180&ref=CCTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 22276180,
"ref": "CCTT",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_213599.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2503_2505delTTC",
"hgvs_p": "p.Phe835del",
"transcript": "NM_213599.3",
"protein_id": "NP_998764.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 913,
"cds_start": 2503,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324559.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213599.3"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2503_2505delTTC",
"hgvs_p": "p.Phe835del",
"transcript": "ENST00000324559.9",
"protein_id": "ENSP00000315371.9",
"transcript_support_level": 1,
"aa_start": 835,
"aa_end": null,
"aa_length": 913,
"cds_start": 2503,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_213599.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324559.9"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2500_2502delTTC",
"hgvs_p": "p.Phe834del",
"transcript": "NM_001142649.2",
"protein_id": "NP_001136121.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 912,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142649.2"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2461_2463delTTC",
"hgvs_p": "p.Phe821del",
"transcript": "NM_001410963.1",
"protein_id": "NP_001397892.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 899,
"cds_start": 2461,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410963.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2461_2463delTTC",
"hgvs_p": "p.Phe821del",
"transcript": "ENST00000682341.1",
"protein_id": "ENSP00000508251.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 899,
"cds_start": 2461,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682341.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2458_2460delTTC",
"hgvs_p": "p.Phe820del",
"transcript": "NM_001410964.1",
"protein_id": "NP_001397893.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 898,
"cds_start": 2458,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410964.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2458_2460delTTC",
"hgvs_p": "p.Phe820del",
"transcript": "ENST00000684663.1",
"protein_id": "ENSP00000508009.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 898,
"cds_start": 2458,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684663.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2425_2427delTTC",
"hgvs_p": "p.Phe809del",
"transcript": "NM_001441294.1",
"protein_id": "NP_001428223.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 887,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441294.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2422_2424delTTC",
"hgvs_p": "p.Phe808del",
"transcript": "NM_001441295.1",
"protein_id": "NP_001428224.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 886,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441295.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2410_2412delTTC",
"hgvs_p": "p.Phe804del",
"transcript": "NM_001441296.1",
"protein_id": "NP_001428225.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 882,
"cds_start": 2410,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441296.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2389_2391delTTC",
"hgvs_p": "p.Phe797del",
"transcript": "ENST00000950081.1",
"protein_id": "ENSP00000620140.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 875,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950081.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2383_2385delTTC",
"hgvs_p": "p.Phe795del",
"transcript": "NM_001441297.1",
"protein_id": "NP_001428226.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 873,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441297.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2347_2349delTTC",
"hgvs_p": "p.Phe783del",
"transcript": "NM_001441298.1",
"protein_id": "NP_001428227.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 861,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441298.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2347_2349delTTC",
"hgvs_p": "p.Phe783del",
"transcript": "ENST00000878905.1",
"protein_id": "ENSP00000548964.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 861,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878905.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2344_2346delTTC",
"hgvs_p": "p.Phe782del",
"transcript": "NM_001441299.1",
"protein_id": "NP_001428228.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 860,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441299.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2344_2346delTTC",
"hgvs_p": "p.Phe782del",
"transcript": "ENST00000878904.1",
"protein_id": "ENSP00000548963.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 860,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878904.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2146_2148delTTC",
"hgvs_p": "p.Phe716del",
"transcript": "ENST00000950082.1",
"protein_id": "ENSP00000620141.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 794,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950082.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2068_2070delTTC",
"hgvs_p": "p.Phe690del",
"transcript": "NM_001441300.1",
"protein_id": "NP_001428229.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 768,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441300.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2068_2070delTTC",
"hgvs_p": "p.Phe690del",
"transcript": "ENST00000939029.1",
"protein_id": "ENSP00000609088.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 768,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939029.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2065_2067delTTC",
"hgvs_p": "p.Phe689del",
"transcript": "NM_001441301.1",
"protein_id": "NP_001428230.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 767,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441301.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2053_2055delTTC",
"hgvs_p": "p.Phe685del",
"transcript": "ENST00000682266.1",
"protein_id": "ENSP00000507766.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 763,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682266.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
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{
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{
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{
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"biotype": "retained_intron",
"feature": "ENST00000683613.1"
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],
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"dbsnp": "rs794727350",
"frequency_reference_population": 0.000009939518,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000822973,
"gnomad_genomes_af": 0.0000263838,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.951,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2_Supporting,PM3_Strong,PM4,PP4",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2_Supporting",
"PM3_Strong",
"PM4",
"PP4"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_213599.3",
"gene_symbol": "ANO5",
"hgnc_id": 27337,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2503_2505delTTC",
"hgvs_p": "p.Phe835del"
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy type 2L,Gnathodiaphyseal dysplasia,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LP:3 US:1",
"phenotype_combined": "not provided|Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}