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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: 8-144882702-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144882702&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144882702,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021061.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.481T>G",
"hgvs_p": "p.Cys161Gly",
"transcript": "NM_001109689.4",
"protein_id": "NP_001103159.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 555,
"cds_start": 481,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000417550.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001109689.4"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.481T>G",
"hgvs_p": "p.Cys161Gly",
"transcript": "ENST00000417550.7",
"protein_id": "ENSP00000393442.2",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 555,
"cds_start": 481,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001109689.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417550.7"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly",
"transcript": "ENST00000292579.11",
"protein_id": "ENSP00000292579.7",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 560,
"cds_start": 496,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292579.11"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.499T>G",
"hgvs_p": "p.Cys167Gly",
"transcript": "ENST00000940320.1",
"protein_id": "ENSP00000610379.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 561,
"cds_start": 499,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940320.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly",
"transcript": "NM_001363098.2",
"protein_id": "NP_001350027.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 560,
"cds_start": 496,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363098.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly",
"transcript": "NM_001363099.2",
"protein_id": "NP_001350028.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 560,
"cds_start": 496,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363099.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly",
"transcript": "NM_021061.5",
"protein_id": "NP_066405.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 560,
"cds_start": 496,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021061.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly",
"transcript": "ENST00000862363.1",
"protein_id": "ENSP00000532421.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 560,
"cds_start": 496,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862363.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly",
"transcript": "ENST00000862364.1",
"protein_id": "ENSP00000532423.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 560,
"cds_start": 496,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862364.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly",
"transcript": "ENST00000862369.1",
"protein_id": "ENSP00000532428.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 560,
"cds_start": 496,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862369.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly",
"transcript": "ENST00000940315.1",
"protein_id": "ENSP00000610374.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 560,
"cds_start": 496,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940315.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly",
"transcript": "ENST00000940316.1",
"protein_id": "ENSP00000610375.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 560,
"cds_start": 496,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940316.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly",
"transcript": "ENST00000956450.1",
"protein_id": "ENSP00000626509.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 560,
"cds_start": 496,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956450.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.481T>G",
"hgvs_p": "p.Cys161Gly",
"transcript": "NM_001363100.2",
"protein_id": "NP_001350029.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 555,
"cds_start": 481,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363100.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.481T>G",
"hgvs_p": "p.Cys161Gly",
"transcript": "NM_001363101.2",
"protein_id": "NP_001350030.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 555,
"cds_start": 481,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363101.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.481T>G",
"hgvs_p": "p.Cys161Gly",
"transcript": "NM_001363102.2",
"protein_id": "NP_001350031.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 555,
"cds_start": 481,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363102.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.481T>G",
"hgvs_p": "p.Cys161Gly",
"transcript": "NM_001363103.2",
"protein_id": "NP_001350032.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 555,
"cds_start": 481,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363103.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.481T>G",
"hgvs_p": "p.Cys161Gly",
"transcript": "ENST00000862366.1",
"protein_id": "ENSP00000532425.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 555,
"cds_start": 481,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862366.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.481T>G",
"hgvs_p": "p.Cys161Gly",
"transcript": "ENST00000862371.1",
"protein_id": "ENSP00000532430.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 555,
"cds_start": 481,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862371.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.481T>G",
"hgvs_p": "p.Cys161Gly",
"transcript": "ENST00000862373.1",
"protein_id": "ENSP00000532431.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 555,
"cds_start": 481,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862373.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.481T>G",
"hgvs_p": "p.Cys161Gly",
"transcript": "ENST00000940321.1",
"protein_id": "ENSP00000610380.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 555,
"cds_start": 481,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940321.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF250",
"gene_hgnc_id": 13044,
"hgvs_c": "c.433T>G",
"hgvs_p": "p.Cys145Gly",
"transcript": "NM_001363104.2",
"protein_id": "NP_001350033.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 539,
"cds_start": 433,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363104.2"
},
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"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_021061.5",
"gene_symbol": "ZNF250",
"hgnc_id": 13044,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Cys166Gly"
}
],
"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
}