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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: 9-128179037-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128179037&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128179037,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001257975.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "NM_001131016.2",
"protein_id": "NP_001124488.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372938.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131016.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000372938.10",
"protein_id": "ENSP00000362029.5",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001131016.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372938.10"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.936G>A",
"hgvs_p": "p.Gln312Gln",
"transcript": "ENST00000415526.5",
"protein_id": "ENSP00000398011.1",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 820,
"cds_start": 936,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415526.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1062+36G>A",
"hgvs_p": null,
"transcript": "ENST00000372954.5",
"protein_id": "ENSP00000362045.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": null,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372954.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Gln420Gln",
"transcript": "NM_001257975.2",
"protein_id": "NP_001244904.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 954,
"cds_start": 1260,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257975.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Gln420Gln",
"transcript": "ENST00000538431.5",
"protein_id": "ENSP00000439244.2",
"transcript_support_level": 2,
"aa_start": 420,
"aa_end": null,
"aa_length": 954,
"cds_start": 1260,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538431.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000866508.1",
"protein_id": "ENSP00000536567.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 954,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866508.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000866505.1",
"protein_id": "ENSP00000536564.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 904,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866505.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "NM_012127.3",
"protein_id": "NP_036259.2",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012127.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000634901.1",
"protein_id": "ENSP00000489425.1",
"transcript_support_level": 5,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634901.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000866500.1",
"protein_id": "ENSP00000536559.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866500.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000866501.1",
"protein_id": "ENSP00000536560.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866501.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000866510.1",
"protein_id": "ENSP00000536569.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866510.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000866511.1",
"protein_id": "ENSP00000536570.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866511.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000866512.1",
"protein_id": "ENSP00000536571.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866512.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000866513.1",
"protein_id": "ENSP00000536572.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866513.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000965482.1",
"protein_id": "ENSP00000635541.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965482.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000965485.1",
"protein_id": "ENSP00000635544.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 898,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965485.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000965486.1",
"protein_id": "ENSP00000635545.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 897,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965486.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Gln390Gln",
"transcript": "ENST00000866506.1",
"protein_id": "ENSP00000536565.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 896,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866506.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1098G>A",
"hgvs_p": "p.Gln366Gln",
"transcript": "ENST00000866502.1",
"protein_id": "ENSP00000536561.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 874,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866502.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.1098G>A",
"hgvs_p": "p.Gln366Gln",
"transcript": "ENST00000866503.1",
"protein_id": "ENSP00000536562.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 874,
"cds_start": 1098,
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"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.675,
"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": -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_001257975.2",
"gene_symbol": "CIZ1",
"hgnc_id": 16744,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Gln420Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}