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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: 4-62070591-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=62070591&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 62070591,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001387552.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4315G>A",
"hgvs_p": "p.Glu1439Lys",
"transcript": "NM_001387552.1",
"protein_id": "NP_001374481.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1543,
"cds_start": 4315,
"cds_end": null,
"cds_length": 4632,
"cdna_start": 5994,
"cdna_end": null,
"cdna_length": 13738,
"mane_select": "ENST00000683033.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387552.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4315G>A",
"hgvs_p": "p.Glu1439Lys",
"transcript": "ENST00000683033.1",
"protein_id": "ENSP00000507980.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1543,
"cds_start": 4315,
"cds_end": null,
"cds_length": 4632,
"cdna_start": 5994,
"cdna_end": null,
"cdna_length": 13738,
"mane_select": "NM_001387552.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683033.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.*422G>A",
"hgvs_p": null,
"transcript": "ENST00000512091.6",
"protein_id": "ENSP00000423388.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1240,
"cds_start": null,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512091.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4426G>A",
"hgvs_p": "p.Glu1476Lys",
"transcript": "ENST00000506720.5",
"protein_id": "ENSP00000420931.1",
"transcript_support_level": 5,
"aa_start": 1476,
"aa_end": null,
"aa_length": 1580,
"cds_start": 4426,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 4426,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506720.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4399G>A",
"hgvs_p": "p.Glu1467Lys",
"transcript": "ENST00000506746.5",
"protein_id": "ENSP00000425884.1",
"transcript_support_level": 5,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1571,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4716,
"cdna_start": 4399,
"cdna_end": null,
"cdna_length": 4935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506746.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4297G>A",
"hgvs_p": "p.Glu1433Lys",
"transcript": "NM_001322402.3",
"protein_id": "NP_001309331.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1537,
"cds_start": 4297,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 5976,
"cdna_end": null,
"cdna_length": 13720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322402.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4270G>A",
"hgvs_p": "p.Glu1424Lys",
"transcript": "NM_001371344.2",
"protein_id": "NP_001358273.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4270,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 5883,
"cdna_end": null,
"cdna_length": 13627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371344.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4270G>A",
"hgvs_p": "p.Glu1424Lys",
"transcript": "NM_001387522.1",
"protein_id": "NP_001374451.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4270,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 5949,
"cdna_end": null,
"cdna_length": 13693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387522.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4270G>A",
"hgvs_p": "p.Glu1424Lys",
"transcript": "ENST00000507625.5",
"protein_id": "ENSP00000421372.1",
"transcript_support_level": 5,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1528,
"cds_start": 4270,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 4376,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507625.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Glu1415Lys",
"transcript": "NM_001387523.1",
"protein_id": "NP_001374452.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1519,
"cds_start": 4243,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 5922,
"cdna_end": null,
"cdna_length": 13666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387523.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4231G>A",
"hgvs_p": "p.Glu1411Lys",
"transcript": "NM_001371345.2",
"protein_id": "NP_001358274.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 1515,
"cds_start": 4231,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 5844,
"cdna_end": null,
"cdna_length": 13588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371345.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4222G>A",
"hgvs_p": "p.Glu1408Lys",
"transcript": "ENST00000508946.5",
"protein_id": "ENSP00000421627.1",
"transcript_support_level": 5,
"aa_start": 1408,
"aa_end": null,
"aa_length": 1512,
"cds_start": 4222,
"cds_end": null,
"cds_length": 4539,
"cdna_start": 4222,
"cdna_end": null,
"cdna_length": 4758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508946.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4216G>A",
"hgvs_p": "p.Glu1406Lys",
"transcript": "NM_001371343.2",
"protein_id": "NP_001358272.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4216,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 5895,
"cdna_end": null,
"cdna_length": 13639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371343.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4216G>A",
"hgvs_p": "p.Glu1406Lys",
"transcript": "NM_001387524.1",
"protein_id": "NP_001374453.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4216,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 5895,
"cdna_end": null,
"cdna_length": 13639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387524.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4216G>A",
"hgvs_p": "p.Glu1406Lys",
"transcript": "NM_001387525.1",
"protein_id": "NP_001374454.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4216,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 5829,
"cdna_end": null,
"cdna_length": 13573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387525.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4207G>A",
"hgvs_p": "p.Glu1403Lys",
"transcript": "NM_001387526.1",
"protein_id": "NP_001374455.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4207,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 5820,
"cdna_end": null,
"cdna_length": 13564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387526.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4198G>A",
"hgvs_p": "p.Glu1400Lys",
"transcript": "NM_001387527.1",
"protein_id": "NP_001374456.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1504,
"cds_start": 4198,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 13555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387527.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4195G>A",
"hgvs_p": "p.Glu1399Lys",
"transcript": "ENST00000514996.5",
"protein_id": "ENSP00000424258.1",
"transcript_support_level": 5,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1503,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 4195,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514996.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4111G>A",
"hgvs_p": "p.Glu1371Lys",
"transcript": "NM_001387528.1",
"protein_id": "NP_001374457.1",
"transcript_support_level": null,
"aa_start": 1371,
"aa_end": null,
"aa_length": 1475,
"cds_start": 4111,
"cds_end": null,
"cds_length": 4428,
"cdna_start": 5724,
"cdna_end": null,
"cdna_length": 13468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387528.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4093G>A",
"hgvs_p": "p.Glu1365Lys",
"transcript": "NM_001387529.1",
"protein_id": "NP_001374458.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4093,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 5706,
"cdna_end": null,
"cdna_length": 13450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387529.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4093G>A",
"hgvs_p": "p.Glu1365Lys",
"transcript": "NM_015236.7",
"protein_id": "NP_056051.2",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4093,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 5772,
"cdna_end": null,
"cdna_length": 13516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015236.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRL3",
"gene_hgnc_id": 20974,
"hgvs_c": "c.4093G>A",
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2413,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -5,
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"acmg_by_gene": [
{
"score": -5,
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001387552.1",
"gene_symbol": "ADGRL3",
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"effects": [
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"inheritance_mode": "AD",
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"hgvs_p": "p.Glu1439Lys"
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{
"score": -1,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000801748.1",
"gene_symbol": "ADGRL3-AS1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}