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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: 11-68047516-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68047516&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68047516,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000265686.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Ala417Thr",
"transcript": "NM_006019.4",
"protein_id": "NP_006010.2",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 830,
"cds_start": 1249,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": "ENST00000265686.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Ala417Thr",
"transcript": "ENST00000265686.8",
"protein_id": "ENSP00000265686.3",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 830,
"cds_start": 1249,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": "NM_006019.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Ala201Thr",
"transcript": "ENST00000532635.5",
"protein_id": "ENSP00000434407.1",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 614,
"cds_start": 601,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Ala417Thr",
"transcript": "NM_001440552.1",
"protein_id": "NP_001427481.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 830,
"cds_start": 1249,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Ala417Thr",
"transcript": "NM_001440553.1",
"protein_id": "NP_001427482.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 830,
"cds_start": 1249,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Ala417Thr",
"transcript": "NM_001440554.1",
"protein_id": "NP_001427483.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 830,
"cds_start": 1249,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Ala403Thr",
"transcript": "NM_001440555.1",
"protein_id": "NP_001427484.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 816,
"cds_start": 1207,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Ala403Thr",
"transcript": "NM_001440556.1",
"protein_id": "NP_001427485.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 816,
"cds_start": 1207,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Ala400Thr",
"transcript": "ENST00000698255.1",
"protein_id": "ENSP00000513630.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 813,
"cds_start": 1198,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Ala417Thr",
"transcript": "NM_001440557.1",
"protein_id": "NP_001427486.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 760,
"cds_start": 1249,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Ala417Thr",
"transcript": "NM_001440558.1",
"protein_id": "NP_001427487.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 760,
"cds_start": 1249,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"transcript": "NM_001440559.1",
"protein_id": "NP_001427488.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 759,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"transcript": "NM_001440560.1",
"protein_id": "NP_001427489.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 759,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"transcript": "NM_001440561.1",
"protein_id": "NP_001427490.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 759,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"transcript": "NM_001440562.1",
"protein_id": "NP_001427491.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 759,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Ala403Thr",
"transcript": "NM_001440563.1",
"protein_id": "NP_001427492.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 746,
"cds_start": 1207,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Ala332Thr",
"transcript": "NM_001440564.1",
"protein_id": "NP_001427493.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 745,
"cds_start": 994,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Ala317Thr",
"transcript": "NM_001440565.1",
"protein_id": "NP_001427494.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 730,
"cds_start": 949,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"transcript": "NM_001440566.1",
"protein_id": "NP_001427495.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 689,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"transcript": "NM_001440567.1",
"protein_id": "NP_001427496.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 676,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Ala261Thr",
"transcript": "NM_001440568.1",
"protein_id": "NP_001427497.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 674,
"cds_start": 781,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Ala260Thr",
"transcript": "ENST00000698254.1",
"protein_id": "ENSP00000513629.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 673,
"cds_start": 778,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
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{
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"pathogenic_score": 3,
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"verdict": "Likely_benign",
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"clinvar_disease": " 1, autosomal dominant, severe congenital,Autosomal recessive osteopetrosis 1,Increased bone mineral density,Neutropenia,TCIRG1-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:7 LB:2 O:1",
"phenotype_combined": "not provided|Autosomal recessive osteopetrosis 1|Increased bone mineral density|Neutropenia, severe congenital, 1, autosomal dominant|TCIRG1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}