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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: 2-237760140-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237760140&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 237760140,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001137552.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1394A>T",
"hgvs_p": "p.Gln465Leu",
"transcript": "NM_001137550.2",
"protein_id": "NP_001131022.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 640,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308482.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001137550.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1394A>T",
"hgvs_p": "p.Gln465Leu",
"transcript": "ENST00000308482.14",
"protein_id": "ENSP00000310109.9",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 640,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001137550.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308482.14"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.824A>T",
"hgvs_p": "p.Gln275Leu",
"transcript": "ENST00000392000.4",
"protein_id": "ENSP00000375857.4",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 808,
"cds_start": 824,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392000.4"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.752A>T",
"hgvs_p": "p.Gln251Leu",
"transcript": "ENST00000244815.9",
"protein_id": "ENSP00000244815.5",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 784,
"cds_start": 752,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244815.9"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.656A>T",
"hgvs_p": "p.Gln219Leu",
"transcript": "ENST00000289175.10",
"protein_id": "ENSP00000289175.6",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 752,
"cds_start": 656,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289175.10"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.824A>T",
"hgvs_p": "p.Gln275Leu",
"transcript": "NM_001137552.2",
"protein_id": "NP_001131024.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 808,
"cds_start": 824,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001137552.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.752A>T",
"hgvs_p": "p.Gln251Leu",
"transcript": "NM_004735.4",
"protein_id": "NP_004726.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 784,
"cds_start": 752,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004735.4"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.656A>T",
"hgvs_p": "p.Gln219Leu",
"transcript": "NM_001137553.2",
"protein_id": "NP_001131025.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 752,
"cds_start": 656,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001137553.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1490A>T",
"hgvs_p": "p.Gln497Leu",
"transcript": "ENST00000970858.1",
"protein_id": "ENSP00000640917.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 692,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970858.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1535A>T",
"hgvs_p": "p.Gln512Leu",
"transcript": "ENST00000970877.1",
"protein_id": "ENSP00000640936.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 687,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970877.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1457A>T",
"hgvs_p": "p.Gln486Leu",
"transcript": "ENST00000970849.1",
"protein_id": "ENSP00000640908.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 681,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970849.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1490A>T",
"hgvs_p": "p.Gln497Leu",
"transcript": "ENST00000863735.1",
"protein_id": "ENSP00000533794.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 672,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863735.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1472A>T",
"hgvs_p": "p.Gln491Leu",
"transcript": "ENST00000970865.1",
"protein_id": "ENSP00000640924.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 666,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970865.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1457A>T",
"hgvs_p": "p.Gln486Leu",
"transcript": "ENST00000863717.1",
"protein_id": "ENSP00000533776.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 661,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863717.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1394A>T",
"hgvs_p": "p.Gln465Leu",
"transcript": "ENST00000970850.1",
"protein_id": "ENSP00000640909.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 660,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970850.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1451A>T",
"hgvs_p": "p.Gln484Leu",
"transcript": "ENST00000970925.1",
"protein_id": "ENSP00000640984.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 659,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970925.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1373A>T",
"hgvs_p": "p.Gln458Leu",
"transcript": "ENST00000970909.1",
"protein_id": "ENSP00000640968.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 653,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970909.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1427A>T",
"hgvs_p": "p.Gln476Leu",
"transcript": "ENST00000970847.1",
"protein_id": "ENSP00000640906.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 651,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970847.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1367A>T",
"hgvs_p": "p.Gln456Leu",
"transcript": "ENST00000970920.1",
"protein_id": "ENSP00000640979.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 651,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970920.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1421A>T",
"hgvs_p": "p.Gln474Leu",
"transcript": "ENST00000970917.1",
"protein_id": "ENSP00000640976.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 649,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970917.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1418A>T",
"hgvs_p": "p.Gln473Leu",
"transcript": "ENST00000863738.1",
"protein_id": "ENSP00000533797.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 648,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863738.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRFIP1",
"gene_hgnc_id": 6702,
"hgvs_c": "c.1418A>T",
"hgvs_p": "p.Gln473Leu",
"transcript": "ENST00000970864.1",
"protein_id": "ENSP00000640923.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 648,
"cds_start": 1418,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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{
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"criteria": [
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"BP4_Strong"
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"verdict": "Likely_benign",
"transcript": "NM_001137552.2",
"gene_symbol": "LRRFIP1",
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"effects": [
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"inheritance_mode": "Unknown",
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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
}