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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: X-131282984-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=131282984&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 131282984,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001170961.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "NM_001555.5",
"protein_id": "NP_001546.2",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1336,
"cds_start": 948,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": "ENST00000361420.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001555.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "ENST00000361420.8",
"protein_id": "ENSP00000355010.3",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 1336,
"cds_start": 948,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": "NM_001555.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361420.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "ENST00000370903.8",
"protein_id": "ENSP00000359940.3",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 1341,
"cds_start": 948,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370903.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.921G>C",
"hgvs_p": "p.Val307Val",
"transcript": "ENST00000370910.5",
"protein_id": "ENSP00000359947.1",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 1327,
"cds_start": 921,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370910.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "NM_001170961.2",
"protein_id": "NP_001164432.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1341,
"cds_start": 948,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170961.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "NM_001438811.1",
"protein_id": "NP_001425740.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1341,
"cds_start": 948,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438811.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "NM_001438812.1",
"protein_id": "NP_001425741.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1336,
"cds_start": 948,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438812.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "NM_001438813.1",
"protein_id": "NP_001425742.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1336,
"cds_start": 948,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438813.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "ENST00000651556.1",
"protein_id": "ENSP00000498789.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1336,
"cds_start": 948,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651556.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "ENST00000930398.1",
"protein_id": "ENSP00000600457.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1336,
"cds_start": 948,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930398.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "ENST00000966718.1",
"protein_id": "ENSP00000636777.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1336,
"cds_start": 948,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966718.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "ENST00000966719.1",
"protein_id": "ENSP00000636778.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1336,
"cds_start": 948,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966719.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.921G>C",
"hgvs_p": "p.Val307Val",
"transcript": "NM_001170962.2",
"protein_id": "NP_001164433.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 1327,
"cds_start": 921,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170962.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.921G>C",
"hgvs_p": "p.Val307Val",
"transcript": "ENST00000370904.6",
"protein_id": "ENSP00000359941.1",
"transcript_support_level": 2,
"aa_start": 307,
"aa_end": null,
"aa_length": 1327,
"cds_start": 921,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 5413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370904.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "NM_001438814.1",
"protein_id": "NP_001425743.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1258,
"cds_start": 948,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438814.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "NM_001438815.1",
"protein_id": "NP_001425744.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1253,
"cds_start": 948,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438815.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "ENST00000652189.1",
"protein_id": "ENSP00000498607.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1240,
"cds_start": 948,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652189.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "ENST00000864056.1",
"protein_id": "ENSP00000534115.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1208,
"cds_start": 948,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864056.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Val1Val",
"transcript": "ENST00000651402.1",
"protein_id": "ENSP00000498744.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 181,
"cds_start": 3,
"cds_end": null,
"cds_length": 546,
"cdna_start": 5,
"cdna_end": null,
"cdna_length": 730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651402.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "XM_047442085.1",
"protein_id": "XP_047298041.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1341,
"cds_start": 948,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442085.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF1",
"gene_hgnc_id": 5948,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val",
"transcript": "XM_011531334.3",
"protein_id": "XP_011529636.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1149,
"cds_start": 948,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531334.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287806",
"gene_hgnc_id": null,
"hgvs_c": "n.560+63511C>G",
"hgvs_p": null,
"transcript": "ENST00000773800.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 732,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000773800.1"
}
],
"gene_symbol": "IGSF1",
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"dbsnp": "rs5932877",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.274,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001170961.2",
"gene_symbol": "IGSF1",
"hgnc_id": 5948,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Val316Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000773800.1",
"gene_symbol": "ENSG00000287806",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.560+63511C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}