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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: 1-31727448-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31727448&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADGRB2",
"hgnc_id": 944,
"hgvs_c": "c.4730C>T",
"hgvs_p": "p.Pro1577Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001364857.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 5661,
"alphamissense_prediction": null,
"alphamissense_score": 0.0855,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0015837252140045166,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "P",
"aa_start": 1577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5708,
"cdna_start": 5377,
"cds_end": null,
"cds_length": 4758,
"cds_start": 4730,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001364857.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4730C>T",
"hgvs_p": "p.Pro1577Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373658.8",
"protein_coding": true,
"protein_id": "NP_001351786.1",
"strand": false,
"transcript": "NM_001364857.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "P",
"aa_start": 1577,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5708,
"cdna_start": 5377,
"cds_end": null,
"cds_length": 4758,
"cds_start": 4730,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000373658.8",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4730C>T",
"hgvs_p": "p.Pro1577Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001364857.2",
"protein_coding": true,
"protein_id": "ENSP00000362762.3",
"strand": false,
"transcript": "ENST00000373658.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "P",
"aa_start": 1576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5400,
"cdna_start": 5069,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4727,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000373655.6",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4727C>T",
"hgvs_p": "p.Pro1576Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362759.2",
"strand": false,
"transcript": "ENST00000373655.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1551,
"aa_ref": "P",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4919,
"cdna_start": 4666,
"cds_end": null,
"cds_length": 4656,
"cds_start": 4628,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000527361.5",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4628C>T",
"hgvs_p": "p.Pro1543Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435397.1",
"strand": false,
"transcript": "ENST00000527361.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "P",
"aa_start": 1576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5705,
"cdna_start": 5374,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4727,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001294335.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4727C>T",
"hgvs_p": "p.Pro1576Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001281264.1",
"strand": false,
"transcript": "NM_001294335.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1554,
"aa_ref": "P",
"aa_start": 1546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 4638,
"cds_end": null,
"cds_length": 4665,
"cds_start": 4637,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000398538.5",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4637C>T",
"hgvs_p": "p.Pro1546Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381548.1",
"strand": false,
"transcript": "ENST00000398538.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1551,
"aa_ref": "P",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5606,
"cdna_start": 5275,
"cds_end": null,
"cds_length": 4656,
"cds_start": 4628,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001294336.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4628C>T",
"hgvs_p": "p.Pro1543Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001281265.1",
"strand": false,
"transcript": "NM_001294336.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "P",
"aa_start": 1492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4879,
"cdna_start": 4548,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4475,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000398556.7",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4475C>T",
"hgvs_p": "p.Pro1492Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381564.3",
"strand": false,
"transcript": "ENST00000398556.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4857,
"cdna_start": 4526,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4472,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000398547.5",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4472C>T",
"hgvs_p": "p.Pro1491Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381555.1",
"strand": false,
"transcript": "ENST00000398547.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "P",
"aa_start": 1458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5176,
"cdna_start": 4845,
"cds_end": null,
"cds_length": 4401,
"cds_start": 4373,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000398542.5",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4373C>T",
"hgvs_p": "p.Pro1458Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381550.1",
"strand": false,
"transcript": "ENST00000398542.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "P",
"aa_start": 1577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5808,
"cdna_start": 5477,
"cds_end": null,
"cds_length": 4758,
"cds_start": 4730,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_017001899.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4730C>T",
"hgvs_p": "p.Pro1577Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857388.1",
"strand": false,
"transcript": "XM_017001899.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1585,
"aa_ref": "P",
"aa_start": 1577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 5219,
"cds_end": null,
"cds_length": 4758,
"cds_start": 4730,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_047426173.1",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4730C>T",
"hgvs_p": "p.Pro1577Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282129.1",
"strand": false,
"transcript": "XM_047426173.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "P",
"aa_start": 1576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5484,
"cdna_start": 5153,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4727,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_017001900.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4727C>T",
"hgvs_p": "p.Pro1576Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857389.1",
"strand": false,
"transcript": "XM_017001900.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1573,
"aa_ref": "P",
"aa_start": 1565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5478,
"cdna_start": 5147,
"cds_end": null,
"cds_length": 4722,
"cds_start": 4694,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_024448673.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4694C>T",
"hgvs_p": "p.Pro1565Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304441.1",
"strand": false,
"transcript": "XM_024448673.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1566,
"aa_ref": "P",
"aa_start": 1558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5430,
"cdna_start": 5099,
"cds_end": null,
"cds_length": 4701,
"cds_start": 4673,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_017001901.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4673C>T",
"hgvs_p": "p.Pro1558Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857390.1",
"strand": false,
"transcript": "XM_017001901.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1565,
"aa_ref": "P",
"aa_start": 1557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5428,
"cdna_start": 5097,
"cds_end": null,
"cds_length": 4698,
"cds_start": 4670,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_017001902.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4670C>T",
"hgvs_p": "p.Pro1557Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857391.1",
"strand": false,
"transcript": "XM_017001902.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1562,
"aa_ref": "P",
"aa_start": 1554,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5419,
"cdna_start": 5088,
"cds_end": null,
"cds_length": 4689,
"cds_start": 4661,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_017001903.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4661C>T",
"hgvs_p": "p.Pro1554Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857392.1",
"strand": false,
"transcript": "XM_017001903.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1552,
"aa_ref": "P",
"aa_start": 1544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 5278,
"cds_end": null,
"cds_length": 4659,
"cds_start": 4631,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_047426178.1",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4631C>T",
"hgvs_p": "p.Pro1544Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282134.1",
"strand": false,
"transcript": "XM_047426178.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1551,
"aa_ref": "P",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 5053,
"cds_end": null,
"cds_length": 4656,
"cds_start": 4628,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_017001905.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4628C>T",
"hgvs_p": "p.Pro1543Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857394.1",
"strand": false,
"transcript": "XM_017001905.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1533,
"aa_ref": "P",
"aa_start": 1525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5330,
"cdna_start": 4999,
"cds_end": null,
"cds_length": 4602,
"cds_start": 4574,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_017001906.2",
"gene_hgnc_id": 944,
"gene_symbol": "ADGRB2",
"hgvs_c": "c.4574C>T",
"hgvs_p": "p.Pro1525Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857395.1",
"strand": false,
"transcript": "XM_017001906.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "P",
"aa_start": 1524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5328,
"cdna_start": 4997,
"cds_end": null,
"cds_length": 4599,
"cds_start": 4571,
"consequences": [
"missense_variant"
],
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