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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: 11-68050524-AGGCCTG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68050524&ref=AGGCCTG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68050524,
"ref": "AGGCCTG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000265686.8",
"consequences": [
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2285_2290delTGGGCC",
"hgvs_p": "p.Leu762_Gly763del",
"transcript": "NM_006019.4",
"protein_id": "NP_006010.2",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 830,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": "ENST00000265686.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2285_2290delTGGGCC",
"hgvs_p": "p.Leu762_Gly763del",
"transcript": "ENST00000265686.8",
"protein_id": "ENSP00000265686.3",
"transcript_support_level": 1,
"aa_start": 762,
"aa_end": null,
"aa_length": 830,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": "NM_006019.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1637_1642delTGGGCC",
"hgvs_p": "p.Leu546_Gly547del",
"transcript": "ENST00000532635.5",
"protein_id": "ENSP00000434407.1",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 614,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "n.1510_1515delTGGGCC",
"hgvs_p": null,
"transcript": "ENST00000530449.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.140-206_140-201delTGGGCC",
"hgvs_p": null,
"transcript": "ENST00000530063.1",
"protein_id": "ENSP00000432957.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": -4,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "n.142+111_142+116delTGGGCC",
"hgvs_p": null,
"transcript": "ENST00000530802.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2285_2290delTGGGCC",
"hgvs_p": "p.Leu762_Gly763del",
"transcript": "NM_001440552.1",
"protein_id": "NP_001427481.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 830,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2285_2290delTGGGCC",
"hgvs_p": "p.Leu762_Gly763del",
"transcript": "NM_001440553.1",
"protein_id": "NP_001427482.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 830,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2943,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2285_2290delTGGGCC",
"hgvs_p": "p.Leu762_Gly763del",
"transcript": "NM_001440554.1",
"protein_id": "NP_001427483.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 830,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2243_2248delTGGGCC",
"hgvs_p": "p.Leu748_Gly749del",
"transcript": "NM_001440555.1",
"protein_id": "NP_001427484.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 816,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2243_2248delTGGGCC",
"hgvs_p": "p.Leu748_Gly749del",
"transcript": "NM_001440556.1",
"protein_id": "NP_001427485.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 816,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2234_2239delTGGGCC",
"hgvs_p": "p.Leu745_Gly746del",
"transcript": "ENST00000698255.1",
"protein_id": "ENSP00000513630.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 813,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2072_2077delTGGGCC",
"hgvs_p": "p.Leu691_Gly692del",
"transcript": "NM_001440559.1",
"protein_id": "NP_001427488.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 759,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2072_2077delTGGGCC",
"hgvs_p": "p.Leu691_Gly692del",
"transcript": "NM_001440560.1",
"protein_id": "NP_001427489.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 759,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2072_2077delTGGGCC",
"hgvs_p": "p.Leu691_Gly692del",
"transcript": "NM_001440561.1",
"protein_id": "NP_001427490.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 759,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2072_2077delTGGGCC",
"hgvs_p": "p.Leu691_Gly692del",
"transcript": "NM_001440562.1",
"protein_id": "NP_001427491.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 759,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.2030_2035delTGGGCC",
"hgvs_p": "p.Leu677_Gly678del",
"transcript": "NM_001440564.1",
"protein_id": "NP_001427493.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 745,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1985_1990delTGGGCC",
"hgvs_p": "p.Leu662_Gly663del",
"transcript": "NM_001440565.1",
"protein_id": "NP_001427494.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 730,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1823_1828delTGGGCC",
"hgvs_p": "p.Leu608_Gly609del",
"transcript": "NM_001440567.1",
"protein_id": "NP_001427496.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 676,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1817_1822delTGGGCC",
"hgvs_p": "p.Leu606_Gly607del",
"transcript": "NM_001440568.1",
"protein_id": "NP_001427497.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 674,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1814_1819delTGGGCC",
"hgvs_p": "p.Leu605_Gly606del",
"transcript": "ENST00000698254.1",
"protein_id": "ENSP00000513629.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 673,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LGR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1637_1642delTGGGCC",
"hgvs_p": "p.Leu546_Gly547del",
"transcript": "NM_006053.4",
"protein_id": "NP_006044.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
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{
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}
],
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}