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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: 16-75541393-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75541393&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM231",
"hgnc_id": 37234,
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Phe296Leu",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001077416.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000260092",
"hgnc_id": null,
"hgvs_c": "n.157+1209T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000460606.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000259992",
"hgnc_id": null,
"hgvs_c": "n.*6T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000564489.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.958,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " type 11,Joubert syndrome 20,Meckel syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9059524536132812,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 316,
"aa_ref": "F",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": 770,
"cds_end": null,
"cds_length": 951,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001077418.3",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Phe243Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258173.11",
"protein_coding": true,
"protein_id": "NP_001070886.1",
"strand": false,
"transcript": "NM_001077418.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 316,
"aa_ref": "F",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": 770,
"cds_end": null,
"cds_length": 951,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000258173.11",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Phe243Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001077418.3",
"protein_coding": true,
"protein_id": "ENSP00000258173.5",
"strand": false,
"transcript": "ENST00000258173.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 345,
"aa_ref": "F",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2920,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1038,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000568377.5",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.814T>C",
"hgvs_p": "p.Phe272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476267.1",
"strand": false,
"transcript": "ENST00000568377.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 268,
"aa_ref": "F",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 614,
"cds_end": null,
"cds_length": 807,
"cds_start": 583,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000565067.5",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.583T>C",
"hgvs_p": "p.Phe195Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457254.1",
"strand": false,
"transcript": "ENST00000565067.5",
"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": 2991,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000562410.5",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "n.*529T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454582.1",
"strand": false,
"transcript": "ENST00000562410.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000570006.5",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "n.*107T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455520.1",
"strand": false,
"transcript": "ENST00000570006.5",
"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": 2991,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000562410.5",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "n.*529T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454582.1",
"strand": false,
"transcript": "ENST00000562410.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000570006.5",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "n.*107T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455520.1",
"strand": false,
"transcript": "ENST00000570006.5",
"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": 2125,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000460606.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000260092",
"hgvs_c": "n.157+1209T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457544.1",
"strand": false,
"transcript": "ENST00000460606.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "F",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3002,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1110,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001077416.2",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Phe296Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070884.2",
"strand": false,
"transcript": "NM_001077416.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 319,
"aa_ref": "F",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 802,
"cds_end": null,
"cds_length": 960,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870301.1",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.727T>C",
"hgvs_p": "p.Phe243Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540360.1",
"strand": false,
"transcript": "ENST00000870301.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 225,
"aa_ref": "F",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 497,
"cds_end": null,
"cds_length": 678,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000870302.1",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.454T>C",
"hgvs_p": "p.Phe152Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540361.1",
"strand": false,
"transcript": "ENST00000870302.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "F",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 412,
"cds_end": null,
"cds_length": 636,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000686680.1",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.412T>C",
"hgvs_p": "p.Phe138Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508892.1",
"strand": false,
"transcript": "ENST00000686680.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 200,
"aa_ref": "F",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 699,
"cds_end": null,
"cds_length": 603,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000692689.1",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Phe127Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509732.1",
"strand": false,
"transcript": "ENST00000692689.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 192,
"aa_ref": "F",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 561,
"cds_end": null,
"cds_length": 579,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000688195.1",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.355T>C",
"hgvs_p": "p.Phe119Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510115.1",
"strand": false,
"transcript": "ENST00000688195.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 260,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": null,
"cds_end": null,
"cds_length": 783,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922029.1",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.711+1162T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592088.1",
"strand": false,
"transcript": "ENST00000922029.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 243,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": null,
"cds_end": null,
"cds_length": 732,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000693682.1",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.665-737T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508670.1",
"strand": false,
"transcript": "ENST00000693682.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 106,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": null,
"cds_end": null,
"cds_length": 321,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685935.1",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "c.*513+1162T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510128.1",
"strand": false,
"transcript": "ENST00000685935.1",
"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": 2520,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000564318.1",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "n.652T>C",
"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": "ENST00000564318.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000564576.1",
"gene_hgnc_id": 37234,
"gene_symbol": "TMEM231",
"hgvs_c": "n.537T>C",
"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": "ENST00000564576.1",
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