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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: 16-57659464-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57659464&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ADGRG1",
"hgnc_id": 4512,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_005682.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 4819,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "16",
"clinvar_classification": "Benign",
"clinvar_disease": "Bilateral frontoparietal polymicrogyria,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4000000059604645,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 687,
"aa_ref": "A",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1338,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_201525.4",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ala446Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000562631.7",
"protein_coding": true,
"protein_id": "NP_958933.1",
"strand": true,
"transcript": "NM_201525.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 687,
"aa_ref": "A",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1338,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000562631.7",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ala446Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_201525.4",
"protein_coding": true,
"protein_id": "ENSP00000455351.2",
"strand": true,
"transcript": "ENST00000562631.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000567835.5",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456794.1",
"strand": true,
"transcript": "ENST00000567835.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 687,
"aa_ref": "A",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 1765,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1338,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000388813.9",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ala446Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373465.5",
"strand": true,
"transcript": "ENST00000388813.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 687,
"aa_ref": "A",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1338,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000540164.6",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ala446Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444911.2",
"strand": true,
"transcript": "ENST00000540164.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 687,
"aa_ref": "A",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1338,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000568908.5",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ala446Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457456.1",
"strand": true,
"transcript": "ENST00000568908.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 698,
"aa_ref": "A",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1371,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860541.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1371C>T",
"hgvs_p": "p.Ala457Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530600.1",
"strand": true,
"transcript": "ENST00000860541.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001145771.3",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139243.1",
"strand": true,
"transcript": "NM_001145771.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4364,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001370428.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357357.1",
"strand": true,
"transcript": "NM_001370428.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4275,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370429.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357358.1",
"strand": true,
"transcript": "NM_001370429.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4246,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370430.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357359.1",
"strand": true,
"transcript": "NM_001370430.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001370431.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357360.1",
"strand": true,
"transcript": "NM_001370431.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370432.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357361.1",
"strand": true,
"transcript": "NM_001370432.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4311,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_005682.7",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005673.3",
"strand": true,
"transcript": "NM_005682.7",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000565976.6",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454933.2",
"strand": true,
"transcript": "ENST00000565976.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000568909.5",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455215.1",
"strand": true,
"transcript": "ENST00000568909.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000673126.2",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500185.2",
"strand": true,
"transcript": "ENST00000673126.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860534.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530593.1",
"strand": true,
"transcript": "ENST00000860534.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3902,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000860543.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530602.1",
"strand": true,
"transcript": "ENST00000860543.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 1910,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000860550.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Ala452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530609.1",
"strand": true,
"transcript": "ENST00000860550.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4042,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
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