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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: X-150645761-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150645761&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "MTM1",
"hgnc_id": 7448,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"inheritance_mode": "XL",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000252.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Severe X-linked myotubular myopathy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000252.3",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370396.7",
"protein_coding": true,
"protein_id": "NP_000243.1",
"strand": true,
"transcript": "NM_000252.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000370396.7",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000252.3",
"protein_coding": true,
"protein_id": "ENSP00000359423.3",
"strand": true,
"transcript": "ENST00000370396.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 618,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1857,
"cds_start": 802,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000689314.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Arg268*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510607.1",
"strand": true,
"transcript": "ENST00000689314.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 618,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3472,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1857,
"cds_start": 802,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866458.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Arg268*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536517.1",
"strand": true,
"transcript": "ENST00000866458.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 865,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001376908.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363837.1",
"strand": true,
"transcript": "NM_001376908.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": 826,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000685944.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509266.1",
"strand": true,
"transcript": "ENST00000685944.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": 833,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000689694.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508718.1",
"strand": true,
"transcript": "ENST00000689694.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866460.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536519.1",
"strand": true,
"transcript": "ENST00000866460.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3750,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866461.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536520.1",
"strand": true,
"transcript": "ENST00000866461.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866462.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536521.1",
"strand": true,
"transcript": "ENST00000866462.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866463.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536522.1",
"strand": true,
"transcript": "ENST00000866463.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3584,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866464.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536523.1",
"strand": true,
"transcript": "ENST00000866464.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866466.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536525.1",
"strand": true,
"transcript": "ENST00000866466.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866467.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536526.1",
"strand": true,
"transcript": "ENST00000866467.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3773,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000866468.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536527.1",
"strand": true,
"transcript": "ENST00000866468.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3424,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866469.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536528.1",
"strand": true,
"transcript": "ENST00000866469.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3485,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866470.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536529.1",
"strand": true,
"transcript": "ENST00000866470.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866473.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536532.1",
"strand": true,
"transcript": "ENST00000866473.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866474.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536533.1",
"strand": true,
"transcript": "ENST00000866474.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3479,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866475.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536534.1",
"strand": true,
"transcript": "ENST00000866475.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1812,
"cds_start": 757,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866476.1",
"gene_hgnc_id": 7448,
"gene_symbol": "MTM1",
"hgvs_c": "c.757C>T",
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