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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: 15-51242798-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=51242798&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 51242798,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000103.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_000103.4",
"protein_id": "NP_000094.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396402.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000103.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "ENST00000396402.6",
"protein_id": "ENSP00000379683.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000103.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396402.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "ENST00000559878.5",
"protein_id": "ENSP00000453149.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559878.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "ENST00000405913.7",
"protein_id": "ENSP00000383930.3",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 218,
"cds_start": 115,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405913.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "n.115T>C",
"hgvs_p": null,
"transcript": "ENST00000439712.6",
"protein_id": "ENSP00000390614.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "non_stop_decay",
"feature": "ENST00000439712.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "n.115T>C",
"hgvs_p": null,
"transcript": "ENST00000557934.5",
"protein_id": "ENSP00000454004.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "non_stop_decay",
"feature": "ENST00000557934.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_001347248.1",
"protein_id": "NP_001334177.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347248.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_001347249.2",
"protein_id": "NP_001334178.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347249.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_001347250.2",
"protein_id": "NP_001334179.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347250.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_001347251.2",
"protein_id": "NP_001334180.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347251.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_001347252.2",
"protein_id": "NP_001334181.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347252.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_001347253.2",
"protein_id": "NP_001334182.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347253.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_001347254.2",
"protein_id": "NP_001334183.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347254.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_001347255.2",
"protein_id": "NP_001334184.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347255.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_001347256.2",
"protein_id": "NP_001334185.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347256.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "NM_031226.3",
"protein_id": "NP_112503.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031226.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "ENST00000396404.8",
"protein_id": "ENSP00000379685.4",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396404.8"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "ENST00000952753.1",
"protein_id": "ENSP00000622812.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952753.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "ENST00000952754.1",
"protein_id": "ENSP00000622813.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952754.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "ENST00000952755.1",
"protein_id": "ENSP00000622814.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952755.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "ENST00000952752.1",
"protein_id": "ENSP00000622811.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 444,
"cds_start": 115,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952752.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Trp39Arg",
"transcript": "ENST00000558328.5",
"protein_id": "ENSP00000453280.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 282,
"cds_start": 115,
"cds_end": null,
"cds_length": 850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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],
"gene_symbol": "CYP19A1",
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"computational_score_selected": 0.006927400827407837,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.362,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.398,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000103.4",
"gene_symbol": "CYP19A1",
"hgnc_id": 2594,
"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.115T>C",
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},
{
"score": -20,
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"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000559909.1",
"gene_symbol": "MIR4713HG",
"hgnc_id": 53124,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.195-35185A>G",
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}
],
"clinvar_disease": "Aromatase deficiency,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "Aromatase deficiency|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}