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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: 2-70214459-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=70214459&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 70214459,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000433529.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"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.924G>T",
"hgvs_p": "p.Gln308His",
"transcript": "NM_022173.4",
"protein_id": "NP_071505.2",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 386,
"cds_start": 924,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": "ENST00000433529.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.924G>T",
"hgvs_p": "p.Gln308His",
"transcript": "ENST00000433529.7",
"protein_id": "ENSP00000401371.2",
"transcript_support_level": 2,
"aa_start": 308,
"aa_end": null,
"aa_length": 386,
"cds_start": 924,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": "NM_022173.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.891G>T",
"hgvs_p": "p.Gln297His",
"transcript": "ENST00000415783.6",
"protein_id": "ENSP00000404023.2",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 375,
"cds_start": 891,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.921G>T",
"hgvs_p": "p.Gln307His",
"transcript": "NM_001351508.2",
"protein_id": "NP_001338437.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 385,
"cds_start": 921,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.921G>T",
"hgvs_p": "p.Gln307His",
"transcript": "ENST00000282574.8",
"protein_id": "ENSP00000282574.4",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 385,
"cds_start": 921,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.897G>T",
"hgvs_p": "p.Gln299His",
"transcript": "NM_001351509.2",
"protein_id": "NP_001338438.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 377,
"cds_start": 897,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.891G>T",
"hgvs_p": "p.Gln297His",
"transcript": "NM_022037.4",
"protein_id": "NP_071320.2",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 375,
"cds_start": 891,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.888G>T",
"hgvs_p": "p.Gln296His",
"transcript": "NM_001351510.2",
"protein_id": "NP_001338439.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 888,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.813G>T",
"hgvs_p": "p.Gln271His",
"transcript": "NM_001351511.1",
"protein_id": "NP_001338440.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 349,
"cds_start": 813,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.786G>T",
"hgvs_p": "p.Gln262His",
"transcript": "NM_001351512.1",
"protein_id": "NP_001338441.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 340,
"cds_start": 786,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.780G>T",
"hgvs_p": "p.Gln260His",
"transcript": "NM_001351513.1",
"protein_id": "NP_001338442.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 338,
"cds_start": 780,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 4508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.696G>T",
"hgvs_p": "p.Gln232His",
"transcript": "NM_001351514.2",
"protein_id": "NP_001338443.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 310,
"cds_start": 696,
"cds_end": null,
"cds_length": 933,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.621G>T",
"hgvs_p": "p.Gln207His",
"transcript": "NM_001351515.2",
"protein_id": "NP_001338444.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 285,
"cds_start": 621,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.504G>T",
"hgvs_p": "p.Gln168His",
"transcript": "NM_001351524.2",
"protein_id": "NP_001338453.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 246,
"cds_start": 504,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.504G>T",
"hgvs_p": "p.Gln168His",
"transcript": "NM_001351525.2",
"protein_id": "NP_001338454.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 246,
"cds_start": 504,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.501G>T",
"hgvs_p": "p.Gln167His",
"transcript": "NM_001351517.2",
"protein_id": "NP_001338446.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 245,
"cds_start": 501,
"cds_end": null,
"cds_length": 738,
"cdna_start": 1337,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.237G>T",
"hgvs_p": "p.Gln79His",
"transcript": "ENST00000454815.6",
"protein_id": "ENSP00000402263.2",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 113,
"cds_start": 237,
"cds_end": null,
"cds_length": 344,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.729G>T",
"hgvs_p": "p.Gln243His",
"transcript": "XM_005264528.6",
"protein_id": "XP_005264585.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 321,
"cds_start": 729,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.624G>T",
"hgvs_p": "p.Gln208His",
"transcript": "XM_047445625.1",
"protein_id": "XP_047301581.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 286,
"cds_start": 624,
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"cdna_start": 4547,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.624G>T",
"hgvs_p": "p.Gln208His",
"transcript": "XM_047445626.1",
"protein_id": "XP_047301582.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 286,
"cds_start": 624,
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"cdna_start": 2977,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.621G>T",
"hgvs_p": "p.Gln207His",
"transcript": "XM_047445627.1",
"protein_id": "XP_047301583.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 285,
"cds_start": 621,
"cds_end": null,
"cds_length": 858,
"cdna_start": 5140,
"cdna_end": null,
"cdna_length": 8652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.621G>T",
"hgvs_p": "p.Gln207His",
"transcript": "XM_047445628.1",
"protein_id": "XP_047301584.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 285,
"cds_start": 621,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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.621G>T",
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{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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"missense_variant"
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"inheritance_mode": "AD,Unknown",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}