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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: 11-22250822-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=22250822&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 22250822,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_213599.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1095A>G",
"hgvs_p": "p.Leu365Leu",
"transcript": "NM_213599.3",
"protein_id": "NP_998764.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 913,
"cds_start": 1095,
"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": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1095A>G",
"hgvs_p": "p.Leu365Leu",
"transcript": "ENST00000324559.9",
"protein_id": "ENSP00000315371.9",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 913,
"cds_start": 1095,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1092A>G",
"hgvs_p": "p.Leu364Leu",
"transcript": "NM_001142649.2",
"protein_id": "NP_001136121.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 912,
"cds_start": 1092,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1053A>G",
"hgvs_p": "p.Leu351Leu",
"transcript": "NM_001410963.1",
"protein_id": "NP_001397892.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 899,
"cds_start": 1053,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1053A>G",
"hgvs_p": "p.Leu351Leu",
"transcript": "ENST00000682341.1",
"protein_id": "ENSP00000508251.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 899,
"cds_start": 1053,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1050A>G",
"hgvs_p": "p.Leu350Leu",
"transcript": "NM_001410964.1",
"protein_id": "NP_001397893.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 898,
"cds_start": 1050,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1050A>G",
"hgvs_p": "p.Leu350Leu",
"transcript": "ENST00000684663.1",
"protein_id": "ENSP00000508009.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 898,
"cds_start": 1050,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1017A>G",
"hgvs_p": "p.Leu339Leu",
"transcript": "NM_001441294.1",
"protein_id": "NP_001428223.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 887,
"cds_start": 1017,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1014A>G",
"hgvs_p": "p.Leu338Leu",
"transcript": "NM_001441295.1",
"protein_id": "NP_001428224.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 886,
"cds_start": 1014,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1002A>G",
"hgvs_p": "p.Leu334Leu",
"transcript": "NM_001441296.1",
"protein_id": "NP_001428225.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 882,
"cds_start": 1002,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.981A>G",
"hgvs_p": "p.Leu327Leu",
"transcript": "ENST00000950081.1",
"protein_id": "ENSP00000620140.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 875,
"cds_start": 981,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Leu325Leu",
"transcript": "NM_001441297.1",
"protein_id": "NP_001428226.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 873,
"cds_start": 975,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.939A>G",
"hgvs_p": "p.Leu313Leu",
"transcript": "NM_001441298.1",
"protein_id": "NP_001428227.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 861,
"cds_start": 939,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.939A>G",
"hgvs_p": "p.Leu313Leu",
"transcript": "ENST00000878905.1",
"protein_id": "ENSP00000548964.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 861,
"cds_start": 939,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.936A>G",
"hgvs_p": "p.Leu312Leu",
"transcript": "NM_001441299.1",
"protein_id": "NP_001428228.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 860,
"cds_start": 936,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.936A>G",
"hgvs_p": "p.Leu312Leu",
"transcript": "ENST00000878904.1",
"protein_id": "ENSP00000548963.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 860,
"cds_start": 936,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1053A>G",
"hgvs_p": "p.Leu351Leu",
"transcript": "ENST00000683197.1",
"protein_id": "ENSP00000507641.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 795,
"cds_start": 1053,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683197.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Leu246Leu",
"transcript": "ENST00000950082.1",
"protein_id": "ENSP00000620141.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 794,
"cds_start": 738,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1053A>G",
"hgvs_p": "p.Leu351Leu",
"transcript": "NM_001441300.1",
"protein_id": "NP_001428229.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 768,
"cds_start": 1053,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1053A>G",
"hgvs_p": "p.Leu351Leu",
"transcript": "ENST00000939029.1",
"protein_id": "ENSP00000609088.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 768,
"cds_start": 1053,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1050A>G",
"hgvs_p": "p.Leu350Leu",
"transcript": "NM_001441301.1",
"protein_id": "NP_001428230.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 767,
"cds_start": 1050,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Leu215Leu",
"transcript": "ENST00000682266.1",
"protein_id": "ENSP00000507766.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 763,
"cds_start": 645,
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"cds_length": 2292,
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],
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"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.69,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_213599.3",
"gene_symbol": "ANO5",
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"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1095A>G",
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}
],
"clinvar_disease": "ANO5-Related Muscle Diseases,Autosomal recessive limb-girdle muscular dystrophy type 2L,Gnathodiaphyseal dysplasia,Miyoshi muscular dystrophy 3,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:4 O:1",
"phenotype_combined": "not provided|not specified|ANO5-Related Muscle Diseases|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}