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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: 9-128169142-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128169142&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128169142,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000372938.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2205C>T",
"hgvs_p": "p.Asp735Asp",
"transcript": "NM_001131016.2",
"protein_id": "NP_001124488.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 898,
"cds_start": 2205,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": "ENST00000372938.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2205C>T",
"hgvs_p": "p.Asp735Asp",
"transcript": "ENST00000372938.10",
"protein_id": "ENSP00000362029.5",
"transcript_support_level": 1,
"aa_start": 735,
"aa_end": null,
"aa_length": 898,
"cds_start": 2205,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": "NM_001131016.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1971C>T",
"hgvs_p": "p.Asp657Asp",
"transcript": "ENST00000415526.5",
"protein_id": "ENSP00000398011.1",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 820,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1965C>T",
"hgvs_p": "p.Asp655Asp",
"transcript": "ENST00000372954.5",
"protein_id": "ENSP00000362045.1",
"transcript_support_level": 1,
"aa_start": 655,
"aa_end": null,
"aa_length": 818,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2373C>T",
"hgvs_p": "p.Asp791Asp",
"transcript": "NM_001257975.2",
"protein_id": "NP_001244904.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 954,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2538,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2373C>T",
"hgvs_p": "p.Asp791Asp",
"transcript": "ENST00000538431.5",
"protein_id": "ENSP00000439244.2",
"transcript_support_level": 2,
"aa_start": 791,
"aa_end": null,
"aa_length": 954,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2205C>T",
"hgvs_p": "p.Asp735Asp",
"transcript": "NM_012127.3",
"protein_id": "NP_036259.2",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 898,
"cds_start": 2205,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2205C>T",
"hgvs_p": "p.Asp735Asp",
"transcript": "ENST00000634901.1",
"protein_id": "ENSP00000489425.1",
"transcript_support_level": 5,
"aa_start": 735,
"aa_end": null,
"aa_length": 898,
"cds_start": 2205,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2121C>T",
"hgvs_p": "p.Asp707Asp",
"transcript": "ENST00000277465.8",
"protein_id": "ENSP00000277465.4",
"transcript_support_level": 5,
"aa_start": 707,
"aa_end": null,
"aa_length": 870,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2121C>T",
"hgvs_p": "p.Asp707Asp",
"transcript": "ENST00000357558.9",
"protein_id": "ENSP00000350169.7",
"transcript_support_level": 5,
"aa_start": 707,
"aa_end": null,
"aa_length": 870,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "NM_001131015.2",
"protein_id": "NP_001124487.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 842,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "ENST00000372948.7",
"protein_id": "ENSP00000362039.3",
"transcript_support_level": 2,
"aa_start": 679,
"aa_end": null,
"aa_length": 842,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2022C>T",
"hgvs_p": "p.Asp674Asp",
"transcript": "NM_001131017.2",
"protein_id": "NP_001124489.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 837,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2022C>T",
"hgvs_p": "p.Asp674Asp",
"transcript": "ENST00000651955.1",
"protein_id": "ENSP00000498625.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 820,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1965C>T",
"hgvs_p": "p.Asp655Asp",
"transcript": "NM_001131018.2",
"protein_id": "NP_001124490.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 818,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1902C>T",
"hgvs_p": "p.Asp634Asp",
"transcript": "NM_001257976.2",
"protein_id": "NP_001244905.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 797,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1902C>T",
"hgvs_p": "p.Asp634Asp",
"transcript": "ENST00000629610.2",
"protein_id": "ENSP00000486816.1",
"transcript_support_level": 2,
"aa_start": 634,
"aa_end": null,
"aa_length": 797,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.507C>T",
"hgvs_p": "p.Asp169Asp",
"transcript": "ENST00000471839.5",
"protein_id": "ENSP00000489129.1",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 308,
"cds_start": 507,
"cds_end": null,
"cds_length": 927,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 928,
"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": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "n.116C>T",
"hgvs_p": null,
"transcript": "ENST00000471773.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 717,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "n.106C>T",
"hgvs_p": null,
"transcript": "ENST00000476541.1",
"protein_id": null,
"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": 513,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "n.923C>T",
"hgvs_p": null,
"transcript": "ENST00000476727.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1205,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "n.-39C>T",
"hgvs_p": null,
"transcript": "ENST00000485001.1",
"protein_id": null,
"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": 596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"dbsnp": "rs41276236",
"frequency_reference_population": 0.02039385,
"hom_count_reference_population": 383,
"allele_count_reference_population": 32916,
"gnomad_exomes_af": 0.02104,
"gnomad_genomes_af": 0.014187,
"gnomad_exomes_ac": 30757,
"gnomad_genomes_ac": 2159,
"gnomad_exomes_homalt": 362,
"gnomad_genomes_homalt": 21,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"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": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.506,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000372938.10",
"gene_symbol": "CIZ1",
"hgnc_id": 16744,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2205C>T",
"hgvs_p": "p.Asp735Asp"
}
],
"clinvar_disease": "Dystonic disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Dystonic disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}