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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: 12-27380272-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=27380272&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 27380272,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394524.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Trp",
"transcript": "NM_020183.6",
"protein_id": "NP_064568.3",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 636,
"cds_start": 352,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266503.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020183.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Trp",
"transcript": "ENST00000266503.10",
"protein_id": "ENSP00000266503.5",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 636,
"cds_start": 352,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020183.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266503.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000311001.9",
"protein_id": "ENSP00000312247.5",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 622,
"cds_start": 310,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311001.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"transcript": "ENST00000395901.6",
"protein_id": "ENSP00000379238.2",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 599,
"cds_start": 241,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395901.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Trp",
"transcript": "ENST00000261178.9",
"protein_id": "ENSP00000261178.5",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 588,
"cds_start": 208,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261178.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.205C>T",
"hgvs_p": "p.Arg69Trp",
"transcript": "ENST00000457040.6",
"protein_id": "ENSP00000400185.2",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 587,
"cds_start": 205,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457040.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000542388.1",
"protein_id": "ENSP00000445836.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 551,
"cds_start": 97,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542388.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Trp",
"transcript": "NM_001394524.1",
"protein_id": "NP_001381453.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 647,
"cds_start": 385,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394524.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Trp",
"transcript": "NM_001394525.1",
"protein_id": "NP_001381454.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 633,
"cds_start": 343,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394525.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Trp",
"transcript": "ENST00000959851.1",
"protein_id": "ENSP00000629910.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 633,
"cds_start": 343,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959851.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "NM_001248002.3",
"protein_id": "NP_001234931.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 622,
"cds_start": 310,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001248002.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Trp",
"transcript": "ENST00000929515.1",
"protein_id": "ENSP00000599574.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 605,
"cds_start": 352,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929515.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"transcript": "NM_001394526.1",
"protein_id": "NP_001381455.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 602,
"cds_start": 250,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394526.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"transcript": "ENST00000544915.5",
"protein_id": "ENSP00000442438.1",
"transcript_support_level": 5,
"aa_start": 84,
"aa_end": null,
"aa_length": 602,
"cds_start": 250,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544915.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"transcript": "NM_001248003.3",
"protein_id": "NP_001234932.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 599,
"cds_start": 241,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001248003.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Trp",
"transcript": "NM_001248004.3",
"protein_id": "NP_001234933.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 588,
"cds_start": 208,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001248004.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Trp",
"transcript": "NM_001394527.1",
"protein_id": "NP_001381456.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 585,
"cds_start": 208,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394527.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"transcript": "NM_001394528.1",
"protein_id": "NP_001381457.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 568,
"cds_start": 241,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394528.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Trp",
"transcript": "NM_001394529.1",
"protein_id": "NP_001381458.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 557,
"cds_start": 208,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394529.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Trp",
"transcript": "ENST00000959850.1",
"protein_id": "ENSP00000629909.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 557,
"cds_start": 208,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959850.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"transcript": "NM_001248005.3",
"protein_id": "NP_001234934.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 540,
"cds_start": 241,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001248005.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"transcript": "ENST00000546179.5",
"protein_id": "ENSP00000438545.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 540,
"cds_start": 241,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546179.5"
},
{
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],
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.048,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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{
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001394524.1",
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"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}