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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: 2-70212810-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=70212810&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 70212810,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022173.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1070A>G",
"hgvs_p": "p.Asn357Ser",
"transcript": "NM_022173.4",
"protein_id": "NP_071505.2",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 386,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": "ENST00000433529.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022173.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1070A>G",
"hgvs_p": "p.Asn357Ser",
"transcript": "ENST00000433529.7",
"protein_id": "ENSP00000401371.2",
"transcript_support_level": 2,
"aa_start": 357,
"aa_end": null,
"aa_length": 386,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": "NM_022173.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433529.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Asn346Ser",
"transcript": "ENST00000415783.6",
"protein_id": "ENSP00000404023.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 375,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415783.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Asn389Ser",
"transcript": "ENST00000881363.1",
"protein_id": "ENSP00000551422.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 418,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881363.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Asn378Ser",
"transcript": "ENST00000881360.1",
"protein_id": "ENSP00000551419.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 407,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881360.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1076A>G",
"hgvs_p": "p.Asn359Ser",
"transcript": "ENST00000881359.1",
"protein_id": "ENSP00000551418.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 388,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881359.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Asn358Ser",
"transcript": "ENST00000881364.1",
"protein_id": "ENSP00000551423.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 387,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881364.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "NM_001351508.2",
"protein_id": "NP_001338437.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 385,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351508.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Asn356Ser",
"transcript": "ENST00000282574.8",
"protein_id": "ENSP00000282574.4",
"transcript_support_level": 5,
"aa_start": 356,
"aa_end": null,
"aa_length": 385,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282574.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Asn353Ser",
"transcript": "ENST00000881362.1",
"protein_id": "ENSP00000551421.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 382,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881362.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1043A>G",
"hgvs_p": "p.Asn348Ser",
"transcript": "NM_001351509.2",
"protein_id": "NP_001338438.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 377,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351509.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1043A>G",
"hgvs_p": "p.Asn348Ser",
"transcript": "ENST00000881361.1",
"protein_id": "ENSP00000551420.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 377,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881361.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Asn346Ser",
"transcript": "NM_022037.4",
"protein_id": "NP_071320.2",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 375,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022037.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Asn345Ser",
"transcript": "NM_001351510.2",
"protein_id": "NP_001338439.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 374,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351510.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Asn345Ser",
"transcript": "ENST00000881358.1",
"protein_id": "ENSP00000551417.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 374,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881358.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Asn320Ser",
"transcript": "NM_001351511.1",
"protein_id": "NP_001338440.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 349,
"cds_start": 959,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351511.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Asn311Ser",
"transcript": "NM_001351512.1",
"protein_id": "NP_001338441.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 340,
"cds_start": 932,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351512.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Asn309Ser",
"transcript": "NM_001351513.1",
"protein_id": "NP_001338442.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 338,
"cds_start": 926,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 4508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351513.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Asn281Ser",
"transcript": "NM_001351514.2",
"protein_id": "NP_001338443.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 310,
"cds_start": 842,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351514.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.Asn256Ser",
"transcript": "NM_001351515.2",
"protein_id": "NP_001338444.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 285,
"cds_start": 767,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351515.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.Asn256Ser",
"transcript": "ENST00000445587.5",
"protein_id": "ENSP00000399567.1",
"transcript_support_level": 5,
"aa_start": 256,
"aa_end": null,
"aa_length": 285,
"cds_start": 767,
"cds_end": null,
"cds_length": 858,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445587.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIA1",
"gene_hgnc_id": 11802,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.Asn240Ser",
"transcript": "ENST00000881365.1",
"protein_id": "ENSP00000551424.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 269,
"cds_start": 719,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP6",
"BS2"
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"verdict": "Likely_benign",
"transcript": "NM_022173.4",
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"effects": [
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"inheritance_mode": "AD,Unknown,SD",
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"hgvs_p": "p.Asn357Ser"
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia,TIA1-related disorder,Welander distal myopathy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:2",
"phenotype_combined": "Welander distal myopathy|not specified|not provided|TIA1-related disorder|Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}