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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: 11-118532940-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118532940&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118532940,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032780.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "NM_032780.4",
"protein_id": "NP_116169.2",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 366,
"cds_start": 406,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": "ENST00000313236.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "ENST00000313236.10",
"protein_id": "ENSP00000315635.5",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 366,
"cds_start": 406,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": "NM_032780.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "ENST00000533102.5",
"protein_id": "ENSP00000431548.1",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 381,
"cds_start": 406,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "ENST00000359862.8",
"protein_id": "ENSP00000352924.4",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 322,
"cds_start": 406,
"cds_end": null,
"cds_length": 969,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "NM_001318755.2",
"protein_id": "NP_001305684.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 381,
"cds_start": 406,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "NM_001144037.2",
"protein_id": "NP_001137509.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 351,
"cds_start": 406,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "ENST00000354284.8",
"protein_id": "ENSP00000346237.4",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 351,
"cds_start": 406,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "NM_001144034.2",
"protein_id": "NP_001137506.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 322,
"cds_start": 406,
"cds_end": null,
"cds_length": 969,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "NM_001144035.2",
"protein_id": "NP_001137507.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 322,
"cds_start": 406,
"cds_end": null,
"cds_length": 969,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "ENST00000411589.6",
"protein_id": "ENSP00000411882.2",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 322,
"cds_start": 406,
"cds_end": null,
"cds_length": 969,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "ENST00000524725.5",
"protein_id": "ENSP00000431205.1",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 322,
"cds_start": 406,
"cds_end": null,
"cds_length": 969,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "NM_001144038.2",
"protein_id": "NP_001137510.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 306,
"cds_start": 406,
"cds_end": null,
"cds_length": 921,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "ENST00000442938.6",
"protein_id": "ENSP00000416071.2",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 306,
"cds_start": 406,
"cds_end": null,
"cds_length": 921,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Gly32Ser",
"transcript": "NM_001144036.2",
"protein_id": "NP_001137508.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 218,
"cds_start": 94,
"cds_end": null,
"cds_length": 657,
"cdna_start": 164,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Gly32Ser",
"transcript": "ENST00000354064.11",
"protein_id": "ENSP00000278959.8",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 218,
"cds_start": 94,
"cds_end": null,
"cds_length": 657,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"transcript": "ENST00000526973.5",
"protein_id": "ENSP00000433059.1",
"transcript_support_level": 4,
"aa_start": 19,
"aa_end": null,
"aa_length": 192,
"cds_start": 55,
"cds_end": null,
"cds_length": 581,
"cdna_start": 57,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Gly104Ser",
"transcript": "ENST00000533137.5",
"protein_id": "ENSP00000433938.1",
"transcript_support_level": 4,
"aa_start": 104,
"aa_end": null,
"aa_length": 169,
"cds_start": 310,
"cds_end": null,
"cds_length": 510,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "ENST00000533689.1",
"protein_id": "ENSP00000436746.1",
"transcript_support_level": 4,
"aa_start": 136,
"aa_end": null,
"aa_length": 137,
"cds_start": 406,
"cds_end": null,
"cds_length": 415,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "XM_005271703.2",
"protein_id": "XP_005271760.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 382,
"cds_start": 406,
"cds_end": null,
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"cdna_start": 473,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "XM_006718926.3",
"protein_id": "XP_006718989.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 382,
"cds_start": 406,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 476,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "XM_047427720.1",
"protein_id": "XP_047283676.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 382,
"cds_start": 406,
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"cdna_start": 1016,
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"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "XM_017018422.3",
"protein_id": "XP_016873911.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 366,
"cds_start": 406,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "XM_047427721.1",
"protein_id": "XP_047283677.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 366,
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"transcript_support_level": 4,
"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": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"dbsnp": "rs191923512",
"frequency_reference_population": 0.000046473757,
"hom_count_reference_population": 0,
"allele_count_reference_population": 75,
"gnomad_exomes_af": 0.0000472123,
"gnomad_genomes_af": 0.0000393882,
"gnomad_exomes_ac": 69,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04464647173881531,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.0931,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.372,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032780.4",
"gene_symbol": "TMEM25",
"hgnc_id": 25890,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser"
}
],
"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
}