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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: 5-123390040-G-GT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=123390040&ref=G&alt=GT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "CEP120",
"hgnc_id": 26690,
"hgvs_c": "c.1139delC",
"hgvs_p": "p.Ser380fs",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_153223.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 986,
"aa_ref": "S",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4993,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 2961,
"cds_start": 1139,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001375405.1",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1139delC",
"hgvs_p": "p.Ser380fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306467.10",
"protein_coding": true,
"protein_id": "NP_001362334.1",
"strand": false,
"transcript": "NM_001375405.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 986,
"aa_ref": "S",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4993,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 2961,
"cds_start": 1139,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000306467.10",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1139delC",
"hgvs_p": "p.Ser380fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001375405.1",
"protein_coding": true,
"protein_id": "ENSP00000303058.6",
"strand": false,
"transcript": "ENST00000306467.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000508138.5",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "n.*711delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422234.1",
"strand": false,
"transcript": "ENST00000508138.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000513565.6",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "n.*221delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422089.2",
"strand": false,
"transcript": "ENST00000513565.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000508138.5",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "n.*711delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422234.1",
"strand": false,
"transcript": "ENST00000508138.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000513565.6",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "n.*221delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422089.2",
"strand": false,
"transcript": "ENST00000513565.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 986,
"aa_ref": "S",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4954,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 2961,
"cds_start": 1139,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_153223.4",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1139delC",
"hgvs_p": "p.Ser380fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_694955.2",
"strand": false,
"transcript": "NM_153223.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 986,
"aa_ref": "S",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4667,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 2961,
"cds_start": 1139,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000328236.10",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1139delC",
"hgvs_p": "p.Ser380fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327504.5",
"strand": false,
"transcript": "ENST00000328236.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 960,
"aa_ref": "S",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 2883,
"cds_start": 1061,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001166226.2",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1061delC",
"hgvs_p": "p.Ser354fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159698.1",
"strand": false,
"transcript": "NM_001166226.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 960,
"aa_ref": "S",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4620,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 2883,
"cds_start": 1061,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000306481.11",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1061delC",
"hgvs_p": "p.Ser354fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307419.6",
"strand": false,
"transcript": "ENST00000306481.11",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 960,
"aa_ref": "S",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5035,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2883,
"cds_start": 1061,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000508442.7",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1061delC",
"hgvs_p": "p.Ser354fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421620.3",
"strand": false,
"transcript": "ENST00000508442.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 953,
"aa_ref": "S",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5014,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1061,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675442.1",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1061delC",
"hgvs_p": "p.Ser354fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502221.1",
"strand": false,
"transcript": "ENST00000675442.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 928,
"aa_ref": "S",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 2787,
"cds_start": 1139,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001375407.1",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1139delC",
"hgvs_p": "p.Ser380fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362336.1",
"strand": false,
"transcript": "NM_001375407.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 928,
"aa_ref": "S",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5051,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 2787,
"cds_start": 1139,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000674684.1",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1139delC",
"hgvs_p": "p.Ser380fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501697.1",
"strand": false,
"transcript": "ENST00000674684.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5129,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 2388,
"cds_start": 566,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001375408.1",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.566delC",
"hgvs_p": "p.Ser189fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362337.1",
"strand": false,
"transcript": "NM_001375408.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5110,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 2388,
"cds_start": 566,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001375409.1",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.566delC",
"hgvs_p": "p.Ser189fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362338.1",
"strand": false,
"transcript": "NM_001375409.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 960,
"aa_ref": "S",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4937,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2883,
"cds_start": 1061,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011543185.3",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1061delC",
"hgvs_p": "p.Ser354fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541487.1",
"strand": false,
"transcript": "XM_011543185.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 941,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4858,
"cdna_start": null,
"cds_end": null,
"cds_length": 2826,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375406.1",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1039-35delC",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362335.1",
"strand": false,
"transcript": "NM_001375406.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 941,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": null,
"cds_end": null,
"cds_length": 2826,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675330.1",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.1039-35delC",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502634.1",
"strand": false,
"transcript": "ENST00000675330.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 915,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4804,
"cdna_start": null,
"cds_end": null,
"cds_length": 2748,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416803.1",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "c.961-35delC",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272759.1",
"strand": false,
"transcript": "XM_047416803.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000503049.2",
"gene_hgnc_id": 26690,
"gene_symbol": "CEP120",
"hgvs_c": "n.1194delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000503049.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
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