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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: 20-25339294-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25339294&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 25339294,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000339157.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Tyr83Tyr",
"transcript": "NM_001042472.3",
"protein_id": "NP_001035937.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 398,
"cds_start": 249,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": "ENST00000339157.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Tyr83Tyr",
"transcript": "ENST00000339157.10",
"protein_id": "ENSP00000341408.5",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 398,
"cds_start": 249,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": "NM_001042472.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Tyr83Tyr",
"transcript": "ENST00000376542.8",
"protein_id": "ENSP00000365725.3",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 404,
"cds_start": 249,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Tyr83Tyr",
"transcript": "NM_015600.5",
"protein_id": "NP_056415.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 404,
"cds_start": 249,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "ENST00000450393.5",
"protein_id": "ENSP00000413311.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 186,
"cds_start": 114,
"cds_end": null,
"cds_length": 561,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Tyr83Tyr",
"transcript": "XM_047440087.1",
"protein_id": "XP_047296043.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 426,
"cds_start": 249,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Tyr83Tyr",
"transcript": "XM_011529214.3",
"protein_id": "XP_011527516.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 249,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "XM_047440088.1",
"protein_id": "XP_047296044.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 381,
"cds_start": 114,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.114C>T",
"hgvs_p": "p.Tyr38Tyr",
"transcript": "XM_047440089.1",
"protein_id": "XP_047296045.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 353,
"cds_start": 114,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Tyr83Tyr",
"transcript": "XM_047440090.1",
"protein_id": "XP_047296046.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 351,
"cds_start": 249,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Tyr83Tyr",
"transcript": "XM_017027797.3",
"protein_id": "XP_016883286.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 225,
"cds_start": 249,
"cds_end": null,
"cds_length": 678,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.249C>T",
"hgvs_p": null,
"transcript": "ENST00000461204.1",
"protein_id": "ENSP00000460249.1",
"transcript_support_level": 3,
"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": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.-223C>T",
"hgvs_p": null,
"transcript": "ENST00000672406.1",
"protein_id": "ENSP00000500208.1",
"transcript_support_level": null,
"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": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.-223C>T",
"hgvs_p": null,
"transcript": "ENST00000673121.1",
"protein_id": "ENSP00000499839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.-223C>T",
"hgvs_p": null,
"transcript": "ENST00000672566.1",
"protein_id": "ENSP00000500106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.-223C>T",
"hgvs_p": null,
"transcript": "ENST00000491682.5",
"protein_id": "ENSP00000459495.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.-223C>T",
"hgvs_p": null,
"transcript": "ENST00000471287.5",
"protein_id": "ENSP00000460950.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": -4,
"cds_end": null,
"cds_length": 316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.-223C>T",
"hgvs_p": null,
"transcript": "ENST00000672406.1",
"protein_id": "ENSP00000500208.1",
"transcript_support_level": null,
"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": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.-230C>T",
"hgvs_p": null,
"transcript": "XM_047440091.1",
"protein_id": "XP_047296047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.-343C>T",
"hgvs_p": null,
"transcript": "XM_047440092.1",
"protein_id": "XP_047296048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.-223C>T",
"hgvs_p": null,
"transcript": "XM_047440093.1",
"protein_id": "XP_047296049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.-296C>T",
"hgvs_p": null,
"transcript": "XM_047440094.1",
"protein_id": "XP_047296050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "n.-61C>T",
"hgvs_p": null,
"transcript": "ENST00000673524.1",
"protein_id": "ENSP00000500316.1",
"transcript_support_level": null,
"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": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"dbsnp": "rs1303044966",
"frequency_reference_population": 0.0000027362214,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273622,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.045,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000339157.10",
"gene_symbol": "ABHD12",
"hgnc_id": 15868,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Tyr83Tyr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}