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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: 9-128166331-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128166331&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128166331,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001257975.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "NM_001131016.2",
"protein_id": "NP_001124488.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "ENST00000372938.10",
"protein_id": "ENSP00000362029.5",
"transcript_support_level": 1,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2329G>T",
"hgvs_p": "p.Ala777Ser",
"transcript": "ENST00000415526.5",
"protein_id": "ENSP00000398011.1",
"transcript_support_level": 1,
"aa_start": 777,
"aa_end": null,
"aa_length": 820,
"cds_start": 2329,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Ala775Ser",
"transcript": "ENST00000372954.5",
"protein_id": "ENSP00000362045.1",
"transcript_support_level": 1,
"aa_start": 775,
"aa_end": null,
"aa_length": 818,
"cds_start": 2323,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2731G>T",
"hgvs_p": "p.Ala911Ser",
"transcript": "NM_001257975.2",
"protein_id": "NP_001244904.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 954,
"cds_start": 2731,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2731G>T",
"hgvs_p": "p.Ala911Ser",
"transcript": "ENST00000538431.5",
"protein_id": "ENSP00000439244.2",
"transcript_support_level": 2,
"aa_start": 911,
"aa_end": null,
"aa_length": 954,
"cds_start": 2731,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2731G>T",
"hgvs_p": "p.Ala911Ser",
"transcript": "ENST00000866508.1",
"protein_id": "ENSP00000536567.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 954,
"cds_start": 2731,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2581G>T",
"hgvs_p": "p.Ala861Ser",
"transcript": "ENST00000866505.1",
"protein_id": "ENSP00000536564.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 904,
"cds_start": 2581,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "NM_012127.3",
"protein_id": "NP_036259.2",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "ENST00000634901.1",
"protein_id": "ENSP00000489425.1",
"transcript_support_level": 5,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "ENST00000866500.1",
"protein_id": "ENSP00000536559.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "ENST00000866501.1",
"protein_id": "ENSP00000536560.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "ENST00000866510.1",
"protein_id": "ENSP00000536569.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "ENST00000866511.1",
"protein_id": "ENSP00000536570.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "ENST00000866512.1",
"protein_id": "ENSP00000536571.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "ENST00000866513.1",
"protein_id": "ENSP00000536572.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "ENST00000965482.1",
"protein_id": "ENSP00000635541.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2563G>T",
"hgvs_p": "p.Ala855Ser",
"transcript": "ENST00000965485.1",
"protein_id": "ENSP00000635544.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 898,
"cds_start": 2563,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2560G>T",
"hgvs_p": "p.Ala854Ser",
"transcript": "ENST00000965486.1",
"protein_id": "ENSP00000635545.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 897,
"cds_start": 2560,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2557G>T",
"hgvs_p": "p.Ala853Ser",
"transcript": "ENST00000866506.1",
"protein_id": "ENSP00000536565.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 896,
"cds_start": 2557,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2491G>T",
"hgvs_p": "p.Ala831Ser",
"transcript": "ENST00000866502.1",
"protein_id": "ENSP00000536561.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 874,
"cds_start": 2491,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIZ1",
"gene_hgnc_id": 16744,
"hgvs_c": "c.2491G>T",
"hgvs_p": "p.Ala831Ser",
"transcript": "ENST00000866503.1",
"protein_id": "ENSP00000536562.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 874,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2625,
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001257975.2",
"gene_symbol": "CIZ1",
"hgnc_id": 16744,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2731G>T",
"hgvs_p": "p.Ala911Ser"
}
],
"clinvar_disease": "Dystonic disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Dystonic disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}