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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: 16-57659478-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57659478&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADGRG1",
"hgnc_id": 4512,
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asp457Gly",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_005682.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.5705,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "16",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7332319021224976,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 687,
"aa_ref": "D",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1352,
"consequences": [
"missense_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.1352A>G",
"hgvs_p": "p.Asp451Gly",
"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": "G",
"aa_end": null,
"aa_length": 687,
"aa_ref": "D",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000562631.7",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Asp451Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000567835.5",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 687,
"aa_ref": "D",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000388813.9",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Asp451Gly",
"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": "G",
"aa_end": null,
"aa_length": 687,
"aa_ref": "D",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 1658,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000540164.6",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Asp451Gly",
"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": "G",
"aa_end": null,
"aa_length": 687,
"aa_ref": "D",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000568908.5",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Asp451Gly",
"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": "G",
"aa_end": null,
"aa_length": 698,
"aa_ref": "D",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1385,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860541.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Asp462Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_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.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4364,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_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.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4275,
"cdna_start": 1578,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_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.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4246,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_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.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_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.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_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.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4311,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_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.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000565976.6",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000568909.5",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000673126.2",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
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"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860534.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3902,
"cdna_start": 1751,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000860543.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000860550.1",
"gene_hgnc_id": 4512,
"gene_symbol": "ADGRG1",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asp457Gly",
"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": "G",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4042,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000860553.1",
"gene_hgnc_id": 4512,
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