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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: 7-23684578-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=23684578&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 23684578,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_199136.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "NM_199136.5",
"protein_id": "NP_954587.2",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 298,
"cds_start": 145,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344962.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199136.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000344962.9",
"protein_id": "ENSP00000342576.4",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 298,
"cds_start": 145,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199136.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344962.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000409192.7",
"protein_id": "ENSP00000386927.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 262,
"cds_start": 145,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409192.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.65+4295C>T",
"hgvs_p": null,
"transcript": "ENST00000409994.3",
"protein_id": "ENSP00000386631.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409994.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "n.185C>T",
"hgvs_p": null,
"transcript": "ENST00000462546.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462546.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000871254.1",
"protein_id": "ENSP00000541313.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 334,
"cds_start": 145,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871254.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000929837.1",
"protein_id": "ENSP00000599896.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 333,
"cds_start": 145,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929837.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000929841.1",
"protein_id": "ENSP00000599900.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 324,
"cds_start": 145,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929841.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000871250.1",
"protein_id": "ENSP00000541309.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 298,
"cds_start": 145,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871250.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000929835.1",
"protein_id": "ENSP00000599894.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 298,
"cds_start": 145,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929835.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000871253.1",
"protein_id": "ENSP00000541312.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 297,
"cds_start": 145,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871253.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000929838.1",
"protein_id": "ENSP00000599897.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 268,
"cds_start": 145,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929838.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "NM_001127364.3",
"protein_id": "NP_001120836.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 262,
"cds_start": 145,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127364.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000871256.1",
"protein_id": "ENSP00000541315.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 261,
"cds_start": 145,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871256.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000929842.1",
"protein_id": "ENSP00000599901.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 229,
"cds_start": 145,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929842.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000929836.1",
"protein_id": "ENSP00000599895.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 193,
"cds_start": 145,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929836.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "XM_011515369.3",
"protein_id": "XP_011513671.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 298,
"cds_start": 145,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515369.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "XM_011515370.3",
"protein_id": "XP_011513672.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 297,
"cds_start": 145,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515370.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "XM_017012134.2",
"protein_id": "XP_016867623.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 262,
"cds_start": 145,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012134.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "XM_011515371.3",
"protein_id": "XP_011513673.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 261,
"cds_start": 145,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515371.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "XM_047420315.1",
"protein_id": "XP_047276271.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 248,
"cds_start": 145,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420315.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM221A",
"gene_hgnc_id": 27977,
"hgvs_c": "c.-45C>T",
"hgvs_p": null,
"transcript": "XM_011515372.3",
"protein_id": "XP_011513674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515372.3"
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_199136.5",
"gene_symbol": "FAM221A",
"hgnc_id": 27977,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys"
}
],
"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
}