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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-150659756-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150659756&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150659756,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000370396.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Gln451Gln",
"transcript": "NM_000252.3",
"protein_id": "NP_000243.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 603,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "ENST00000370396.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Gln451Gln",
"transcript": "ENST00000370396.7",
"protein_id": "ENSP00000359423.3",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 603,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "NM_000252.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Gln466Gln",
"transcript": "ENST00000689314.1",
"protein_id": "ENSP00000510607.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 618,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Gln451Gln",
"transcript": "NM_001376908.1",
"protein_id": "NP_001363837.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 603,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Gln451Gln",
"transcript": "ENST00000685944.1",
"protein_id": "ENSP00000509266.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 603,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Gln451Gln",
"transcript": "ENST00000689694.1",
"protein_id": "ENSP00000508718.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 603,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Gln451Gln",
"transcript": "NM_001376906.1",
"protein_id": "NP_001363835.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 602,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1242G>A",
"hgvs_p": "p.Gln414Gln",
"transcript": "NM_001376907.1",
"protein_id": "NP_001363836.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 566,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1164G>A",
"hgvs_p": "p.Gln388Gln",
"transcript": "ENST00000692852.1",
"protein_id": "ENSP00000510337.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 540,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Gln380Gln",
"transcript": "ENST00000692015.1",
"protein_id": "ENSP00000510634.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 532,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1008G>A",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000685439.1",
"protein_id": "ENSP00000508454.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 488,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1008G>A",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000691232.1",
"protein_id": "ENSP00000509675.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 488,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.609G>A",
"hgvs_p": "p.Gln203Gln",
"transcript": "ENST00000688403.1",
"protein_id": "ENSP00000508944.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 355,
"cds_start": 609,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.609G>A",
"hgvs_p": "p.Gln203Gln",
"transcript": "ENST00000690282.1",
"protein_id": "ENSP00000509809.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 355,
"cds_start": 609,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Gln473Gln",
"transcript": "XM_047442132.1",
"protein_id": "XP_047298088.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 625,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Gln473Gln",
"transcript": "XM_047442133.1",
"protein_id": "XP_047298089.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 625,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Gln466Gln",
"transcript": "XM_011531171.2",
"protein_id": "XP_011529473.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 618,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Gln466Gln",
"transcript": "XM_011531172.2",
"protein_id": "XP_011529474.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 618,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Gln466Gln",
"transcript": "XM_017029548.2",
"protein_id": "XP_016885037.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 618,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Gln466Gln",
"transcript": "XM_017029547.1",
"protein_id": "XP_016885036.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 617,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1374G>A",
"hgvs_p": "p.Gln458Gln",
"transcript": "XM_047442134.1",
"protein_id": "XP_047298090.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 610,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTM1",
"gene_hgnc_id": 7448,
"hgvs_c": "c.1374G>A",
"hgvs_p": "p.Gln458Gln",
"transcript": "XM_047442135.1",
"protein_id": "XP_047298091.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 610,
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"spliceai_max_score": 0.87,
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"dbscsnv_ada_score": 0.964010047472499,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM6,PP3,PM2_Supporting,PS4_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM6",
"PP3",
"PM2_Supporting",
"PS4_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000370396.7",
"gene_symbol": "MTM1",
"hgnc_id": 7448,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1353G>A",
"hgvs_p": "p.Gln451Gln"
}
],
"clinvar_disease": "Centronuclear myopathy,Severe X-linked myotubular myopathy",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"phenotype_combined": "Severe X-linked myotubular myopathy|Centronuclear myopathy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}