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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: 7-23691504-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=23691504&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 23691504,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_199136.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "NM_199136.5",
"protein_id": "NP_954587.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 298,
"cds_start": 545,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344962.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199136.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "ENST00000344962.9",
"protein_id": "ENSP00000342576.4",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 298,
"cds_start": 545,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199136.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344962.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "ENST00000409192.7",
"protein_id": "ENSP00000386927.3",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 545,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409192.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Val124Ala",
"transcript": "ENST00000409994.3",
"protein_id": "ENSP00000386631.3",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 204,
"cds_start": 371,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409994.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "n.585T>C",
"hgvs_p": null,
"transcript": "ENST00000462546.5",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462546.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "ENST00000871254.1",
"protein_id": "ENSP00000541313.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 334,
"cds_start": 545,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871254.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "ENST00000929837.1",
"protein_id": "ENSP00000599896.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 333,
"cds_start": 545,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929837.1"
},
{
"aa_ref": "V",
"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": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Val244Ala",
"transcript": "ENST00000929841.1",
"protein_id": "ENSP00000599900.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 324,
"cds_start": 731,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929841.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Val124Ala",
"transcript": "ENST00000929843.1",
"protein_id": "ENSP00000599902.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 301,
"cds_start": 371,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929843.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "ENST00000871250.1",
"protein_id": "ENSP00000541309.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 298,
"cds_start": 545,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871250.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "ENST00000929835.1",
"protein_id": "ENSP00000599894.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 298,
"cds_start": 545,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929835.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "ENST00000871253.1",
"protein_id": "ENSP00000541312.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 297,
"cds_start": 545,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871253.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Val124Ala",
"transcript": "ENST00000871255.1",
"protein_id": "ENSP00000541314.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 276,
"cds_start": 371,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871255.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "ENST00000929838.1",
"protein_id": "ENSP00000599897.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 268,
"cds_start": 545,
"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": "ENST00000929838.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Val124Ala",
"transcript": "ENST00000929834.1",
"protein_id": "ENSP00000599893.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 265,
"cds_start": 371,
"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": "ENST00000929834.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "NM_001127364.3",
"protein_id": "NP_001120836.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 262,
"cds_start": 545,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127364.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala",
"transcript": "ENST00000871256.1",
"protein_id": "ENSP00000541315.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 261,
"cds_start": 545,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871256.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Val124Ala",
"transcript": "NM_001300932.2",
"protein_id": "NP_001287861.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 240,
"cds_start": 371,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300932.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Val124Ala",
"transcript": "ENST00000409653.5",
"protein_id": "ENSP00000386900.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 240,
"cds_start": 371,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409653.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Val124Ala",
"transcript": "ENST00000929839.1",
"protein_id": "ENSP00000599898.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 240,
"cds_start": 371,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929839.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Val124Ala",
"transcript": "ENST00000871252.1",
"protein_id": "ENSP00000541311.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 239,
"cds_start": 371,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871252.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Val124Ala",
"transcript": "ENST00000871257.1",
"protein_id": "ENSP00000541316.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 220,
"cds_start": 371,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871257.1"
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"gnomad_exomes_af": 0.0000848217,
"gnomad_genomes_af": 0.0000788095,
"gnomad_exomes_ac": 124,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10888257622718811,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.161,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.766,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_199136.5",
"gene_symbol": "FAM221A",
"hgnc_id": 27977,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Val182Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}