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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: 17-81715021-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81715021&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81715021,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001270953.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "NM_012140.5",
"protein_id": "NP_036272.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 287,
"cds_start": 162,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000350690.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012140.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000350690.10",
"protein_id": "ENSP00000345580.5",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 287,
"cds_start": 162,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012140.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350690.10"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262660",
"gene_hgnc_id": null,
"hgvs_c": "c.627C>T",
"hgvs_p": "p.Thr209Thr",
"transcript": "ENST00000571730.1",
"protein_id": "ENSP00000461324.1",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 442,
"cds_start": 627,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571730.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000545862.5",
"protein_id": "ENSP00000446242.2",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 406,
"cds_start": 162,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545862.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000331531.9",
"protein_id": "ENSP00000328403.5",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 296,
"cds_start": 162,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331531.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "NM_001270953.2",
"protein_id": "NP_001257882.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 406,
"cds_start": 162,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270953.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Thr83Thr",
"transcript": "ENST00000863926.1",
"protein_id": "ENSP00000533985.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 316,
"cds_start": 249,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863926.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "NM_001270888.2",
"protein_id": "NP_001257817.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 296,
"cds_start": 162,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270888.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000863930.1",
"protein_id": "ENSP00000533989.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 294,
"cds_start": 162,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863930.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Thr50Thr",
"transcript": "ENST00000863929.1",
"protein_id": "ENSP00000533988.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 292,
"cds_start": 150,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863929.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000863924.1",
"protein_id": "ENSP00000533983.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 291,
"cds_start": 162,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863924.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000919831.1",
"protein_id": "ENSP00000589890.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 286,
"cds_start": 162,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919831.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000863923.1",
"protein_id": "ENSP00000533982.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 285,
"cds_start": 162,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863923.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.Thr50Thr",
"transcript": "ENST00000863922.1",
"protein_id": "ENSP00000533981.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 283,
"cds_start": 150,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863922.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000863931.1",
"protein_id": "ENSP00000533990.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 278,
"cds_start": 162,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863931.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000863928.1",
"protein_id": "ENSP00000533987.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 274,
"cds_start": 162,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863928.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000863932.1",
"protein_id": "ENSP00000533991.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 273,
"cds_start": 162,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863932.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000863925.1",
"protein_id": "ENSP00000533984.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 268,
"cds_start": 162,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863925.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000863927.1",
"protein_id": "ENSP00000533986.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 265,
"cds_start": 162,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863927.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "XM_047435431.1",
"protein_id": "XP_047291387.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 273,
"cds_start": 162,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435431.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "c.33C>T",
"hgvs_p": "p.Thr11Thr",
"transcript": "XM_047435432.1",
"protein_id": "XP_047291388.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 244,
"cds_start": 33,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A10",
"gene_hgnc_id": 10980,
"hgvs_c": "n.4C>T",
"hgvs_p": null,
"transcript": "ENST00000571876.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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{
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{
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{
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],
"gene_symbol": "SLC25A10",
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"hom_count_reference_population": 7442,
"allele_count_reference_population": 146663,
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"gnomad_genomes_af": 0.0720906,
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"gnomad_genomes_homalt": 535,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"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": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.734,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001270953.2",
"gene_symbol": "SLC25A10",
"hgnc_id": 10980,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr"
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{
"score": -13,
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"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000571730.1",
"gene_symbol": "ENSG00000262660",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.627C>T",
"hgvs_p": "p.Thr209Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}