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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: 12-27400633-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=27400633&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 27400633,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000266503.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "NM_020183.6",
"protein_id": "NP_064568.3",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 636,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": "ENST00000266503.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "ENST00000266503.10",
"protein_id": "ENSP00000266503.5",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 636,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": "NM_020183.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.977A>G",
"hgvs_p": "p.Asn326Ser",
"transcript": "ENST00000311001.9",
"protein_id": "ENSP00000312247.5",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 622,
"cds_start": 977,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Asn303Ser",
"transcript": "ENST00000395901.6",
"protein_id": "ENSP00000379238.2",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 599,
"cds_start": 908,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.875A>G",
"hgvs_p": "p.Asn292Ser",
"transcript": "ENST00000261178.9",
"protein_id": "ENSP00000261178.5",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 588,
"cds_start": 875,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Asn291Ser",
"transcript": "ENST00000457040.6",
"protein_id": "ENSP00000400185.2",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 587,
"cds_start": 872,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.764A>G",
"hgvs_p": "p.Asn255Ser",
"transcript": "ENST00000542388.1",
"protein_id": "ENSP00000445836.1",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 551,
"cds_start": 764,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 770,
"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.130-6010T>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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Asn351Ser",
"transcript": "NM_001394524.1",
"protein_id": "NP_001381453.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 647,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 6935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.Asn337Ser",
"transcript": "NM_001394525.1",
"protein_id": "NP_001381454.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 633,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.977A>G",
"hgvs_p": "p.Asn326Ser",
"transcript": "NM_001248002.3",
"protein_id": "NP_001234931.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 622,
"cds_start": 977,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 6860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.917A>G",
"hgvs_p": "p.Asn306Ser",
"transcript": "NM_001394526.1",
"protein_id": "NP_001381455.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 602,
"cds_start": 917,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.917A>G",
"hgvs_p": "p.Asn306Ser",
"transcript": "ENST00000544915.5",
"protein_id": "ENSP00000442438.1",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 602,
"cds_start": 917,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 6785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Asn303Ser",
"transcript": "NM_001248003.3",
"protein_id": "NP_001234932.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 599,
"cds_start": 908,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 6791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.875A>G",
"hgvs_p": "p.Asn292Ser",
"transcript": "NM_001248004.3",
"protein_id": "NP_001234933.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 588,
"cds_start": 875,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 6758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.875A>G",
"hgvs_p": "p.Asn292Ser",
"transcript": "NM_001394527.1",
"protein_id": "NP_001381456.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 585,
"cds_start": 875,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Asn272Ser",
"transcript": "NM_001394528.1",
"protein_id": "NP_001381457.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 568,
"cds_start": 815,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 6698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Asn261Ser",
"transcript": "NM_001394529.1",
"protein_id": "NP_001381458.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 557,
"cds_start": 782,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 6665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Asn303Ser",
"transcript": "NM_001248005.3",
"protein_id": "NP_001234934.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 540,
"cds_start": 908,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Asn303Ser",
"transcript": "ENST00000546179.5",
"protein_id": "ENSP00000438545.1",
"transcript_support_level": 2,
"aa_start": 303,
"aa_end": null,
"aa_length": 540,
"cds_start": 908,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Asn320Ser",
"transcript": "XM_011520768.3",
"protein_id": "XP_011519070.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 616,
"cds_start": 959,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "XM_011520769.3",
"protein_id": "XP_011519071.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 613,
"cds_start": 950,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 6833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMAL2",
"gene_hgnc_id": 18984,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Asn309Ser",
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}
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}