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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: 2-70212808-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=70212808&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 70212808,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022173.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1072T>G",
"hgvs_p": "p.Tyr358Asp",
"transcript": "NM_022173.4",
"protein_id": "NP_071505.2",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000433529.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022173.4"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1072T>G",
"hgvs_p": "p.Tyr358Asp",
"transcript": "ENST00000433529.7",
"protein_id": "ENSP00000401371.2",
"transcript_support_level": 2,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022173.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433529.7"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1039T>G",
"hgvs_p": "p.Tyr347Asp",
"transcript": "ENST00000415783.6",
"protein_id": "ENSP00000404023.2",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 375,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415783.6"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1168T>G",
"hgvs_p": "p.Tyr390Asp",
"transcript": "ENST00000881363.1",
"protein_id": "ENSP00000551422.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 418,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881363.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1135T>G",
"hgvs_p": "p.Tyr379Asp",
"transcript": "ENST00000881360.1",
"protein_id": "ENSP00000551419.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 407,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881360.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1078T>G",
"hgvs_p": "p.Tyr360Asp",
"transcript": "ENST00000881359.1",
"protein_id": "ENSP00000551418.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 388,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881359.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1075T>G",
"hgvs_p": "p.Tyr359Asp",
"transcript": "ENST00000881364.1",
"protein_id": "ENSP00000551423.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 387,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881364.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1069T>G",
"hgvs_p": "p.Tyr357Asp",
"transcript": "NM_001351508.2",
"protein_id": "NP_001338437.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 385,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351508.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1069T>G",
"hgvs_p": "p.Tyr357Asp",
"transcript": "ENST00000282574.8",
"protein_id": "ENSP00000282574.4",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 385,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282574.8"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1060T>G",
"hgvs_p": "p.Tyr354Asp",
"transcript": "ENST00000881362.1",
"protein_id": "ENSP00000551421.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 382,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881362.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1045T>G",
"hgvs_p": "p.Tyr349Asp",
"transcript": "NM_001351509.2",
"protein_id": "NP_001338438.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 377,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351509.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1045T>G",
"hgvs_p": "p.Tyr349Asp",
"transcript": "ENST00000881361.1",
"protein_id": "ENSP00000551420.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 377,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881361.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1039T>G",
"hgvs_p": "p.Tyr347Asp",
"transcript": "NM_022037.4",
"protein_id": "NP_071320.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 375,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022037.4"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1036T>G",
"hgvs_p": "p.Tyr346Asp",
"transcript": "NM_001351510.2",
"protein_id": "NP_001338439.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 374,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351510.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.1036T>G",
"hgvs_p": "p.Tyr346Asp",
"transcript": "ENST00000881358.1",
"protein_id": "ENSP00000551417.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 374,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881358.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.961T>G",
"hgvs_p": "p.Tyr321Asp",
"transcript": "NM_001351511.1",
"protein_id": "NP_001338440.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 349,
"cds_start": 961,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351511.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.934T>G",
"hgvs_p": "p.Tyr312Asp",
"transcript": "NM_001351512.1",
"protein_id": "NP_001338441.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 340,
"cds_start": 934,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351512.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.928T>G",
"hgvs_p": "p.Tyr310Asp",
"transcript": "NM_001351513.1",
"protein_id": "NP_001338442.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 338,
"cds_start": 928,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351513.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.844T>G",
"hgvs_p": "p.Tyr282Asp",
"transcript": "NM_001351514.2",
"protein_id": "NP_001338443.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 310,
"cds_start": 844,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351514.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.769T>G",
"hgvs_p": "p.Tyr257Asp",
"transcript": "NM_001351515.2",
"protein_id": "NP_001338444.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 285,
"cds_start": 769,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351515.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.769T>G",
"hgvs_p": "p.Tyr257Asp",
"transcript": "ENST00000445587.5",
"protein_id": "ENSP00000399567.1",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 285,
"cds_start": 769,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445587.5"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"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.721T>G",
"hgvs_p": "p.Tyr241Asp",
"transcript": "ENST00000881365.1",
"protein_id": "ENSP00000551424.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 269,
"cds_start": 721,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
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{
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],
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"gnomad_exomes_af": 6.84105e-7,
"gnomad_genomes_af": 0.0000065722,
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"computational_score_selected": 0.31791889667510986,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.342,
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"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.06,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022173.4",
"gene_symbol": "TIA1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1072T>G",
"hgvs_p": "p.Tyr358Asp"
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{
"score": 1,
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"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Welander distal myopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Welander distal myopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}