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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: 22-50574346-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50574346&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"PP3",
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CPT1B",
"hgnc_id": 2329,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"inheritance_mode": "Unknown",
"pathogenic_score": 1,
"score": -11,
"transcript": "NM_004377.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"PP3",
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "CHKB-CPT1B",
"hgnc_id": 41998,
"hgvs_c": "n.*1190G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": -11,
"transcript": "ENST00000453634.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BA1",
"acmg_score": -11,
"allele_count_reference_population": 24585,
"alphamissense_prediction": null,
"alphamissense_score": 0.4756,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.32,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003402233123779297,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 2319,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_152246.3",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000312108.12",
"protein_coding": true,
"protein_id": "NP_689452.1",
"strand": false,
"transcript": "NM_152246.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 2319,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000312108.12",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152246.3",
"protein_coding": true,
"protein_id": "ENSP00000312189.8",
"strand": false,
"transcript": "ENST00000312108.12",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 2319,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000395650.6",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379011.2",
"strand": false,
"transcript": "ENST00000395650.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2647,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 2319,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000405237.7",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385486.3",
"strand": false,
"transcript": "ENST00000405237.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000453634.5",
"gene_hgnc_id": 41998,
"gene_symbol": "CHKB-CPT1B",
"hgvs_c": "n.*1190G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457031.1",
"strand": false,
"transcript": "ENST00000453634.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000453634.5",
"gene_hgnc_id": 41998,
"gene_symbol": "CHKB-CPT1B",
"hgvs_c": "n.*1190G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457031.1",
"strand": false,
"transcript": "ENST00000453634.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 784,
"aa_ref": "G",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 2355,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948034.1",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Gly332Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618093.1",
"strand": false,
"transcript": "ENST00000948034.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 784,
"aa_ref": "G",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 2355,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948060.1",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Gly332Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618119.1",
"strand": false,
"transcript": "ENST00000948060.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 784,
"aa_ref": "G",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 2355,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948068.1",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Gly332Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618127.1",
"strand": false,
"transcript": "ENST00000948068.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 784,
"aa_ref": "G",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2719,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 2355,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948073.1",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Gly332Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618132.1",
"strand": false,
"transcript": "ENST00000948073.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 779,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 2340,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000867466.1",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Gly327Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537525.1",
"strand": false,
"transcript": "ENST00000867466.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 779,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 2340,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948038.1",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Gly327Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618097.1",
"strand": false,
"transcript": "ENST00000948038.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 779,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 2340,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948041.1",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Gly327Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618100.1",
"strand": false,
"transcript": "ENST00000948041.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 779,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 2340,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948046.1",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Gly327Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618105.1",
"strand": false,
"transcript": "ENST00000948046.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 779,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 2340,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948049.1",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Gly327Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618108.1",
"strand": false,
"transcript": "ENST00000948049.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 2319,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001145135.2",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138607.1",
"strand": false,
"transcript": "NM_001145135.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 2319,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001145137.2",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138609.1",
"strand": false,
"transcript": "NM_001145137.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 2319,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_004377.4",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004368.1",
"strand": false,
"transcript": "NM_004377.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 2319,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_152245.3",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689451.1",
"strand": false,
"transcript": "NM_152245.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 2319,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000867451.1",
"gene_hgnc_id": 2329,
"gene_symbol": "CPT1B",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537510.1",
"strand": false,
"transcript": "ENST00000867451.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 772,
"aa_ref": "G",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
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