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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: 2-70214436-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=70214436&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 70214436,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000433529.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "NM_022173.4",
"protein_id": "NP_071505.2",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 386,
"cds_start": 947,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": "ENST00000433529.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "ENST00000433529.7",
"protein_id": "ENSP00000401371.2",
"transcript_support_level": 2,
"aa_start": 316,
"aa_end": null,
"aa_length": 386,
"cds_start": 947,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": "NM_022173.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Ala305Val",
"transcript": "ENST00000415783.6",
"protein_id": "ENSP00000404023.2",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 375,
"cds_start": 914,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"transcript": "NM_001351508.2",
"protein_id": "NP_001338437.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 385,
"cds_start": 944,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ala315Val",
"transcript": "ENST00000282574.8",
"protein_id": "ENSP00000282574.4",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 385,
"cds_start": 944,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"transcript": "NM_001351509.2",
"protein_id": "NP_001338438.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 377,
"cds_start": 920,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Ala305Val",
"transcript": "NM_022037.4",
"protein_id": "NP_071320.2",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 375,
"cds_start": 914,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.911C>T",
"hgvs_p": "p.Ala304Val",
"transcript": "NM_001351510.2",
"protein_id": "NP_001338439.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 374,
"cds_start": 911,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Ala279Val",
"transcript": "NM_001351511.1",
"protein_id": "NP_001338440.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 349,
"cds_start": 836,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Ala270Val",
"transcript": "NM_001351512.1",
"protein_id": "NP_001338441.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 340,
"cds_start": 809,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ala268Val",
"transcript": "NM_001351513.1",
"protein_id": "NP_001338442.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 338,
"cds_start": 803,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 4508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "NM_001351514.2",
"protein_id": "NP_001338443.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 310,
"cds_start": 719,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "NM_001351515.2",
"protein_id": "NP_001338444.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 285,
"cds_start": 644,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Ala176Val",
"transcript": "NM_001351524.2",
"protein_id": "NP_001338453.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 246,
"cds_start": 527,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Ala176Val",
"transcript": "NM_001351525.2",
"protein_id": "NP_001338454.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 246,
"cds_start": 527,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ala175Val",
"transcript": "NM_001351517.2",
"protein_id": "NP_001338446.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 245,
"cds_start": 524,
"cds_end": null,
"cds_length": 738,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Ala87Val",
"transcript": "ENST00000454815.6",
"protein_id": "ENSP00000402263.2",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 113,
"cds_start": 260,
"cds_end": null,
"cds_length": 344,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Ala251Val",
"transcript": "XM_005264528.6",
"protein_id": "XP_005264585.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 321,
"cds_start": 752,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Ala216Val",
"transcript": "XM_047445625.1",
"protein_id": "XP_047301581.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 286,
"cds_start": 647,
"cds_end": null,
"cds_length": 861,
"cdna_start": 4570,
"cdna_end": null,
"cdna_length": 8059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Ala216Val",
"transcript": "XM_047445626.1",
"protein_id": "XP_047301582.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 286,
"cds_start": 647,
"cds_end": null,
"cds_length": 861,
"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 6489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "XM_047445627.1",
"protein_id": "XP_047301583.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 285,
"cds_start": 644,
"cds_end": null,
"cds_length": 858,
"cdna_start": 5163,
"cdna_end": null,
"cdna_length": 8652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "XM_047445628.1",
"protein_id": "XP_047301584.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 285,
"cds_start": 644,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "XM_047445629.1",
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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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"bayesdelnoaf_score": -0.35,
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
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"acmg_by_gene": [
{
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"PM2",
"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
"missense_variant"
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{
"score": 0,
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"PM2",
"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"intron_variant"
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}