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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: 22-31083263-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31083263&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMTN",
"hgnc_id": 11126,
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001382642.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000273387",
"hgnc_id": null,
"hgvs_c": "n.303G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000609017.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.3042,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.286939799785614,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 224,
"cds_end": null,
"cds_length": 2748,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_134269.3",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333137.12",
"protein_coding": true,
"protein_id": "NP_599031.1",
"strand": true,
"transcript": "NM_134269.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 224,
"cds_end": null,
"cds_length": 2748,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000333137.12",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_134269.3",
"protein_coding": true,
"protein_id": "ENSP00000329532.7",
"strand": true,
"transcript": "ENST00000333137.12",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 917,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 223,
"cds_end": null,
"cds_length": 2754,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000347557.6",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328635.5",
"strand": true,
"transcript": "ENST00000347557.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 551,
"cds_end": null,
"cds_length": 3030,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382642.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369571.1",
"strand": true,
"transcript": "NM_001382642.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "A",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 228,
"cds_end": null,
"cds_length": 3009,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001207017.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.167C>A",
"hgvs_p": "p.Ala56Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193946.1",
"strand": true,
"transcript": "NM_001207017.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "A",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 167,
"cds_end": null,
"cds_length": 3009,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000619644.5",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.167C>A",
"hgvs_p": "p.Ala56Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484398.1",
"strand": true,
"transcript": "ENST00000619644.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 969,
"aa_ref": "A",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3513,
"cdna_start": 441,
"cds_end": null,
"cds_length": 2910,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001382643.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.167C>A",
"hgvs_p": "p.Ala56Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369572.1",
"strand": true,
"transcript": "NM_001382643.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 969,
"aa_ref": "A",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3383,
"cdna_start": 311,
"cds_end": null,
"cds_length": 2910,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382644.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.167C>A",
"hgvs_p": "p.Ala56Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369573.1",
"strand": true,
"transcript": "NM_001382644.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 968,
"aa_ref": "A",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3322,
"cdna_start": 321,
"cds_end": null,
"cds_length": 2907,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000440425.6",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.167C>A",
"hgvs_p": "p.Ala56Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401341.2",
"strand": true,
"transcript": "ENST00000440425.6",
"transcript_support_level": 4
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 951,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 220,
"cds_end": null,
"cds_length": 2856,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000951812.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621871.1",
"strand": true,
"transcript": "ENST00000951812.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 946,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": 460,
"cds_end": null,
"cds_length": 2841,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382645.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369574.1",
"strand": true,
"transcript": "NM_001382645.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 946,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3389,
"cdna_start": 224,
"cds_end": null,
"cds_length": 2841,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000897101.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567160.1",
"strand": true,
"transcript": "ENST00000897101.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 946,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 311,
"cds_end": null,
"cds_length": 2841,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897102.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567161.1",
"strand": true,
"transcript": "ENST00000897102.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 940,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 224,
"cds_end": null,
"cds_length": 2823,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_134270.3",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_599032.2",
"strand": true,
"transcript": "NM_134270.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 940,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 223,
"cds_end": null,
"cds_length": 2823,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000358743.5",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351593.1",
"strand": true,
"transcript": "ENST00000358743.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 925,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": 224,
"cds_end": null,
"cds_length": 2778,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000897104.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567163.1",
"strand": true,
"transcript": "ENST00000897104.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 917,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 224,
"cds_end": null,
"cds_length": 2754,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006932.5",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_008863.3",
"strand": true,
"transcript": "NM_006932.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 354,
"cds_end": null,
"cds_length": 2748,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382638.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369567.1",
"strand": true,
"transcript": "NM_001382638.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 719,
"cds_end": null,
"cds_length": 2748,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382639.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369568.1",
"strand": true,
"transcript": "NM_001382639.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": 155,
"cds_end": null,
"cds_length": 2748,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382640.1",
"gene_hgnc_id": 11126,
"gene_symbol": "SMTN",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369569.1",
"strand": true,
"transcript": "NM_001382640.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 460,
"cds_end": null,
"cds_length": 2748,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
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