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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: 16-57659568-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57659568&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57659568,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000562631.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1442T>C",
"hgvs_p": "p.Leu481Pro",
"transcript": "NM_201525.4",
"protein_id": "NP_958933.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 687,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": "ENST00000562631.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1442T>C",
"hgvs_p": "p.Leu481Pro",
"transcript": "ENST00000562631.7",
"protein_id": "ENSP00000455351.2",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 687,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": "NM_201525.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "ENST00000567835.5",
"protein_id": "ENSP00000456794.1",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1442T>C",
"hgvs_p": "p.Leu481Pro",
"transcript": "ENST00000388813.9",
"protein_id": "ENSP00000373465.5",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 687,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1442T>C",
"hgvs_p": "p.Leu481Pro",
"transcript": "ENST00000540164.6",
"protein_id": "ENSP00000444911.2",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 687,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1442T>C",
"hgvs_p": "p.Leu481Pro",
"transcript": "ENST00000568908.5",
"protein_id": "ENSP00000457456.1",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 687,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "NM_001145771.3",
"protein_id": "NP_001139243.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "NM_001370428.1",
"protein_id": "NP_001357357.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "NM_001370429.1",
"protein_id": "NP_001357358.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "NM_001370430.1",
"protein_id": "NP_001357359.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "NM_001370431.1",
"protein_id": "NP_001357360.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "NM_001370432.1",
"protein_id": "NP_001357361.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "NM_005682.7",
"protein_id": "NP_005673.3",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "ENST00000565976.6",
"protein_id": "ENSP00000454933.2",
"transcript_support_level": 2,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "ENST00000568909.5",
"protein_id": "ENSP00000455215.1",
"transcript_support_level": 5,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "ENST00000673126.2",
"protein_id": "ENSP00000500185.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 693,
"cds_start": 1460,
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"cds_length": 2082,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1457T>C",
"hgvs_p": "p.Leu486Pro",
"transcript": "NM_001145773.3",
"protein_id": "NP_001139245.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 692,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1457T>C",
"hgvs_p": "p.Leu486Pro",
"transcript": "NM_001370433.1",
"protein_id": "NP_001357362.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 692,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1457T>C",
"hgvs_p": "p.Leu486Pro",
"transcript": "NM_001370434.1",
"protein_id": "NP_001357363.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 692,
"cds_start": 1457,
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"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1457T>C",
"hgvs_p": "p.Leu486Pro",
"transcript": "ENST00000456916.5",
"protein_id": "ENSP00000398034.2",
"transcript_support_level": 2,
"aa_start": 486,
"aa_end": null,
"aa_length": 692,
"cds_start": 1457,
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"cdna_start": 1788,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1442T>C",
"hgvs_p": "p.Leu481Pro",
"transcript": "NM_001145770.3",
"protein_id": "NP_001139242.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 687,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1442T>C",
"hgvs_p": "p.Leu481Pro",
"transcript": "NM_001145772.3",
"protein_id": "NP_001139244.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 687,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
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],
"gene_symbol": "ADGRG1",
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"dbsnp": "rs587783653",
"frequency_reference_population": 6.8407127e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84071e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.9794452786445618,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.661,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9542,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.67,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
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"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000562631.7",
"gene_symbol": "ADGRG1",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "Bilateral frontoparietal polymicrogyria,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"phenotype_combined": "Bilateral frontoparietal polymicrogyria|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}