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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: 5-43609336-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=43609336&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 43609336,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_012343.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "NM_182977.3",
"protein_id": "NP_892022.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344920.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182977.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000344920.9",
"protein_id": "ENSP00000343873.4",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182977.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344920.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000264663.9",
"protein_id": "ENSP00000264663.5",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264663.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "NM_012343.4",
"protein_id": "NP_036475.3",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012343.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000653251.1",
"protein_id": "ENSP00000499281.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000653251.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000656666.1",
"protein_id": "ENSP00000499249.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656666.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000662525.1",
"protein_id": "ENSP00000499639.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000662525.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000669601.1",
"protein_id": "ENSP00000499527.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000669601.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000670904.1",
"protein_id": "ENSP00000499611.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000670904.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000671668.1",
"protein_id": "ENSP00000499494.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671668.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000871260.1",
"protein_id": "ENSP00000541319.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871260.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000871264.1",
"protein_id": "ENSP00000541323.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871264.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000964740.1",
"protein_id": "ENSP00000634799.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964740.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000964741.1",
"protein_id": "ENSP00000634800.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964741.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000964746.1",
"protein_id": "ENSP00000634805.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964746.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000964748.1",
"protein_id": "ENSP00000634807.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964748.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000964749.1",
"protein_id": "ENSP00000634808.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1086,
"cds_start": 141,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964749.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000964737.1",
"protein_id": "ENSP00000634796.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1070,
"cds_start": 141,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964737.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000964745.1",
"protein_id": "ENSP00000634804.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1069,
"cds_start": 141,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964745.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000964747.1",
"protein_id": "ENSP00000634806.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1059,
"cds_start": 141,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964747.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000654405.1",
"protein_id": "ENSP00000499670.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1027,
"cds_start": 141,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000654405.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000964738.1",
"protein_id": "ENSP00000634797.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 1012,
"cds_start": 141,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964738.1"
},
{
"aa_ref": "P",
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"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000116318,
"gnomad_genomes_af": 0.000091977,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"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": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.366,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_012343.4",
"gene_symbol": "NNT",
"hgnc_id": 7863,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.141T>G",
"hgvs_p": "p.Pro47Pro"
}
],
"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
}