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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: 16-57651309-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57651309&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "ADGRG1",
"hgnc_id": 4512,
"hgvs_c": "c.-352C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001290143.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1663,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21122896671295166,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 687,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 382,
"cds_end": null,
"cds_length": 2064,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_201525.4",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 687,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 382,
"cds_end": null,
"cds_length": 2064,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000562631.7",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 387,
"cds_end": null,
"cds_length": 2082,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000567835.5",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 687,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 601,
"cds_end": null,
"cds_length": 2064,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000388813.9",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 687,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 480,
"cds_end": null,
"cds_length": 2064,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000540164.6",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 687,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 522,
"cds_end": null,
"cds_length": 2064,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000568908.5",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": null,
"aa_end": null,
"aa_length": 518,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": null,
"cds_end": null,
"cds_length": 1557,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001290143.2",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.-352C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277072.1",
"strand": true,
"transcript": "NM_001290143.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 512,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4220,
"cdna_start": null,
"cds_end": null,
"cds_length": 1539,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001290144.2",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.-352C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277073.1",
"strand": true,
"transcript": "NM_001290144.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 512,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4303,
"cdna_start": null,
"cds_end": null,
"cds_length": 1539,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370451.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.-352C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357380.1",
"strand": true,
"transcript": "NM_001370451.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 512,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": null,
"cds_end": null,
"cds_length": 1539,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370453.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.-352C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357382.1",
"strand": true,
"transcript": "NM_001370453.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 512,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": null,
"cds_end": null,
"cds_length": 1539,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370454.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.-352C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357383.1",
"strand": true,
"transcript": "NM_001370454.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 698,
"aa_ref": "I",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": 416,
"cds_end": null,
"cds_length": 2097,
"cds_start": 189,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860541.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.189C>G",
"hgvs_p": "p.Ile63Met",
"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": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 500,
"cds_end": null,
"cds_length": 2082,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001145771.3",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4364,
"cdna_start": 471,
"cds_end": null,
"cds_length": 2082,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370428.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4275,
"cdna_start": 382,
"cds_end": null,
"cds_length": 2082,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370429.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4246,
"cdna_start": 353,
"cds_end": null,
"cds_length": 2082,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370430.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 422,
"cds_end": null,
"cds_length": 2082,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370431.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 300,
"cds_end": null,
"cds_length": 2082,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370432.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4311,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2082,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_005682.7",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 467,
"cds_end": null,
"cds_length": 2082,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000565976.6",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
"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": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 348,
"cds_end": null,
"cds_length": 2082,
"cds_start": 174,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000568909.5",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Ile58Met",
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