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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: 2-27037601-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27037601&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27037601,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017727.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "NM_017727.5",
"protein_id": "NP_060197.4",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 689,
"cds_start": 1051,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": "ENST00000238788.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017727.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "ENST00000238788.14",
"protein_id": "ENSP00000238788.9",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 689,
"cds_start": 1051,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": "NM_017727.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238788.14"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "ENST00000901052.1",
"protein_id": "ENSP00000571111.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 727,
"cds_start": 1051,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901052.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Val359Met",
"transcript": "ENST00000934288.1",
"protein_id": "ENSP00000604347.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 697,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934288.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Val356Met",
"transcript": "ENST00000901053.1",
"protein_id": "ENSP00000571112.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 694,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901053.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "ENST00000901051.1",
"protein_id": "ENSP00000571110.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 687,
"cds_start": 1051,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901051.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "ENST00000901054.1",
"protein_id": "ENSP00000571113.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 687,
"cds_start": 1051,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901054.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "ENST00000934287.1",
"protein_id": "ENSP00000604346.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 674,
"cds_start": 1051,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934287.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "ENST00000901050.1",
"protein_id": "ENSP00000571109.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 664,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901050.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Val312Met",
"transcript": "ENST00000934286.1",
"protein_id": "ENSP00000604345.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 650,
"cds_start": 934,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934286.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Val306Met",
"transcript": "NM_001083590.2",
"protein_id": "NP_001077059.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 644,
"cds_start": 916,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083590.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Val306Met",
"transcript": "ENST00000404032.7",
"protein_id": "ENSP00000384417.3",
"transcript_support_level": 2,
"aa_start": 306,
"aa_end": null,
"aa_length": 644,
"cds_start": 916,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404032.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "ENST00000901055.1",
"protein_id": "ENSP00000571114.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 642,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901055.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000425720.5",
"protein_id": "ENSP00000393490.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 245,
"cds_start": 325,
"cds_end": null,
"cds_length": 738,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425720.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "XM_005264381.4",
"protein_id": "XP_005264438.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 753,
"cds_start": 1051,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264381.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "XM_005264382.4",
"protein_id": "XP_005264439.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 715,
"cds_start": 1051,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264382.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "XM_047444826.1",
"protein_id": "XP_047300782.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 637,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444826.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met",
"transcript": "XM_047444827.1",
"protein_id": "XP_047300783.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 387,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "n.1051G>A",
"hgvs_p": null,
"transcript": "ENST00000321326.11",
"protein_id": "ENSP00000319469.7",
"transcript_support_level": 2,
"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": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000321326.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "n.1051G>A",
"hgvs_p": null,
"transcript": "ENST00000435172.6",
"protein_id": "ENSP00000395061.2",
"transcript_support_level": 5,
"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": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000435172.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "n.292G>A",
"hgvs_p": null,
"transcript": "ENST00000460904.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 506,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460904.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM214",
"gene_hgnc_id": 25983,
"hgvs_c": "n.864G>A",
"hgvs_p": null,
"transcript": "ENST00000475258.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 927,
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{
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],
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004638940095901489,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.2094,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.347,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_017727.5",
"gene_symbol": "TMEM214",
"hgnc_id": 25983,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}