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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: 12-27403456-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=27403456&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 27403456,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000266503.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1501A>G",
"hgvs_p": "p.Ser501Gly",
"transcript": "NM_020183.6",
"protein_id": "NP_064568.3",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 636,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": "ENST00000266503.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1501A>G",
"hgvs_p": "p.Ser501Gly",
"transcript": "ENST00000266503.10",
"protein_id": "ENSP00000266503.5",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 636,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": "NM_020183.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1459A>G",
"hgvs_p": "p.Ser487Gly",
"transcript": "ENST00000311001.9",
"protein_id": "ENSP00000312247.5",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 622,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1390A>G",
"hgvs_p": "p.Ser464Gly",
"transcript": "ENST00000395901.6",
"protein_id": "ENSP00000379238.2",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 599,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ser453Gly",
"transcript": "ENST00000261178.9",
"protein_id": "ENSP00000261178.5",
"transcript_support_level": 1,
"aa_start": 453,
"aa_end": null,
"aa_length": 588,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1354A>G",
"hgvs_p": "p.Ser452Gly",
"transcript": "ENST00000457040.6",
"protein_id": "ENSP00000400185.2",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 587,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1246A>G",
"hgvs_p": "p.Ser416Gly",
"transcript": "ENST00000542388.1",
"protein_id": "ENSP00000445836.1",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 551,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL2-AS1",
"gene_hgnc_id": 49892,
"hgvs_c": "n.130-8833T>C",
"hgvs_p": null,
"transcript": "ENST00000500498.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1534A>G",
"hgvs_p": "p.Ser512Gly",
"transcript": "NM_001394524.1",
"protein_id": "NP_001381453.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 647,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 6935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Ser498Gly",
"transcript": "NM_001394525.1",
"protein_id": "NP_001381454.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 633,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1459A>G",
"hgvs_p": "p.Ser487Gly",
"transcript": "NM_001248002.3",
"protein_id": "NP_001234931.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 622,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 6860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1399A>G",
"hgvs_p": "p.Ser467Gly",
"transcript": "NM_001394526.1",
"protein_id": "NP_001381455.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 602,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1399A>G",
"hgvs_p": "p.Ser467Gly",
"transcript": "ENST00000544915.5",
"protein_id": "ENSP00000442438.1",
"transcript_support_level": 5,
"aa_start": 467,
"aa_end": null,
"aa_length": 602,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 6785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1390A>G",
"hgvs_p": "p.Ser464Gly",
"transcript": "NM_001248003.3",
"protein_id": "NP_001234932.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 599,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 6791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ser453Gly",
"transcript": "NM_001248004.3",
"protein_id": "NP_001234933.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 588,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 6758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1348A>G",
"hgvs_p": "p.Ser450Gly",
"transcript": "NM_001394527.1",
"protein_id": "NP_001381456.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 585,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Ser433Gly",
"transcript": "NM_001394528.1",
"protein_id": "NP_001381457.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 568,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 6698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Ser422Gly",
"transcript": "NM_001394529.1",
"protein_id": "NP_001381458.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 557,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 6665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1390A>G",
"hgvs_p": "p.Ser464Gly",
"transcript": "NM_001248005.3",
"protein_id": "NP_001234934.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 540,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1390A>G",
"hgvs_p": "p.Ser464Gly",
"transcript": "ENST00000546179.5",
"protein_id": "ENSP00000438545.1",
"transcript_support_level": 2,
"aa_start": 464,
"aa_end": null,
"aa_length": 540,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1441A>G",
"hgvs_p": "p.Ser481Gly",
"transcript": "XM_011520768.3",
"protein_id": "XP_011519070.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 616,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1432A>G",
"hgvs_p": "p.Ser478Gly",
"transcript": "XM_011520769.3",
"protein_id": "XP_011519071.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 613,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 6833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Ser470Gly",
"transcript": "XM_047429171.1",
"protein_id": "XP_047285127.1",
"transcript_support_level": null,
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
"score": -10,
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"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000266503.10",
"gene_symbol": "BMAL2",
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"effects": [
"missense_variant"
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"inheritance_mode": "",
"hgvs_c": "c.1501A>G",
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{
"score": -10,
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"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000500498.2",
"gene_symbol": "BMAL2-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}