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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: 4-508931-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=508931&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 508931,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000453061.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Pro288Ala",
"transcript": "NM_001127178.3",
"protein_id": "NP_001120650.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 983,
"cds_start": 862,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": "ENST00000453061.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Pro288Ala",
"transcript": "ENST00000453061.7",
"protein_id": "ENSP00000415203.2",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 983,
"cds_start": 862,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": "NM_001127178.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.463C>G",
"hgvs_p": "p.Pro155Ala",
"transcript": "ENST00000383028.8",
"protein_id": "ENSP00000372494.4",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 850,
"cds_start": 463,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "ENST00000509768.1",
"protein_id": "ENSP00000421550.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 480,
"cds_start": 595,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 3121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "n.862C>G",
"hgvs_p": null,
"transcript": "ENST00000506402.5",
"protein_id": "ENSP00000424619.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Pro288Ala",
"transcript": "NM_017733.5",
"protein_id": "NP_060203.3",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 975,
"cds_start": 862,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Pro288Ala",
"transcript": "ENST00000310340.9",
"protein_id": "ENSP00000311750.5",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 975,
"cds_start": 862,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "NM_001289051.2",
"protein_id": "NP_001275980.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 894,
"cds_start": 595,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "NM_001345986.2",
"protein_id": "NP_001332915.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 894,
"cds_start": 595,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "ENST00000504346.5",
"protein_id": "ENSP00000424800.1",
"transcript_support_level": 2,
"aa_start": 199,
"aa_end": null,
"aa_length": 894,
"cds_start": 595,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "NM_001345987.2",
"protein_id": "NP_001332916.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 886,
"cds_start": 595,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.463C>G",
"hgvs_p": "p.Pro155Ala",
"transcript": "NM_001289052.2",
"protein_id": "NP_001275981.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 850,
"cds_start": 463,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Pro288Ala",
"transcript": "NM_001345989.2",
"protein_id": "NP_001332918.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 612,
"cds_start": 862,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "NM_001289053.2",
"protein_id": "NP_001275982.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 480,
"cds_start": 595,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.496C>G",
"hgvs_p": "p.Pro166Ala",
"transcript": "NM_001289055.2",
"protein_id": "NP_001275984.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 341,
"cds_start": 496,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "NM_001289057.2",
"protein_id": "NP_001275986.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 299,
"cds_start": 595,
"cds_end": null,
"cds_length": 900,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "ENST00000503111.5",
"protein_id": "ENSP00000426002.1",
"transcript_support_level": 2,
"aa_start": 199,
"aa_end": null,
"aa_length": 299,
"cds_start": 595,
"cds_end": null,
"cds_length": 900,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Pro288Ala",
"transcript": "XM_011513490.4",
"protein_id": "XP_011511792.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 930,
"cds_start": 862,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 5655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.496C>G",
"hgvs_p": "p.Pro166Ala",
"transcript": "XM_047415846.1",
"protein_id": "XP_047271802.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 861,
"cds_start": 496,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Pro288Ala",
"transcript": "XM_047415847.1",
"protein_id": "XP_047271803.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 701,
"cds_start": 862,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Pro199Ala",
"transcript": "XM_047415848.1",
"protein_id": "XP_047271804.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 657,
"cds_start": 595,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Pro288Ala",
"transcript": "XM_047415849.1",
"protein_id": "XP_047271805.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 624,
"cds_start": 862,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Pro288Ala",
"transcript": "XM_047415850.1",
"protein_id": "XP_047271806.1",
"transcript_support_level": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"dbsnp": "rs369146029",
"frequency_reference_population": 0.0000024789229,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136847,
"gnomad_genomes_af": 0.0000131477,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14893034100532532,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.0578,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.209,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000453061.7",
"gene_symbol": "PIGG",
"hgnc_id": 25985,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Pro288Ala"
}
],
"clinvar_disease": " autosomal recessive 53,Intellectual disability",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Intellectual disability, autosomal recessive 53",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}