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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: 17-50170657-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50170657&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SGCA",
"hgnc_id": 10805,
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_000023.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000253730",
"hgnc_id": null,
"hgvs_c": "n.543+10053G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000751801.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.1114,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2D",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3538399338722229,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 387,
"aa_ref": "A",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1429,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1164,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000023.4",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262018.8",
"protein_coding": true,
"protein_id": "NP_000014.1",
"strand": true,
"transcript": "NM_000023.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 387,
"aa_ref": "A",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1429,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1164,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000262018.8",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000023.4",
"protein_coding": true,
"protein_id": "ENSP00000262018.3",
"strand": true,
"transcript": "ENST00000262018.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 263,
"aa_ref": "A",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1057,
"cdna_start": 638,
"cds_end": null,
"cds_length": 792,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000344627.10",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Ala201Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345522.6",
"strand": true,
"transcript": "ENST00000344627.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 417,
"aa_ref": "A",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1064,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952408.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.1064C>T",
"hgvs_p": "p.Ala355Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622467.1",
"strand": true,
"transcript": "ENST00000952408.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1477,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1013,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895793.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Ala338Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565852.1",
"strand": true,
"transcript": "ENST00000895793.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 395,
"aa_ref": "A",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1188,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952409.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622468.1",
"strand": true,
"transcript": "ENST00000952409.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 387,
"aa_ref": "A",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1164,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895791.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565850.1",
"strand": true,
"transcript": "ENST00000895791.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 387,
"aa_ref": "A",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1164,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895792.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565851.1",
"strand": true,
"transcript": "ENST00000895792.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 387,
"aa_ref": "A",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1164,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895798.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565857.1",
"strand": true,
"transcript": "ENST00000895798.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 387,
"aa_ref": "A",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1164,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952411.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622470.1",
"strand": true,
"transcript": "ENST00000952411.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1095,
"cds_start": 905,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952404.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622463.1",
"strand": true,
"transcript": "ENST00000952404.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "A",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1341,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1080,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895794.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Ala297Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565853.1",
"strand": true,
"transcript": "ENST00000895794.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 356,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1071,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895796.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Ala294Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565855.1",
"strand": true,
"transcript": "ENST00000895796.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1044,
"cdna_start": 854,
"cds_end": null,
"cds_length": 1044,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000682109.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ala285Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508041.1",
"strand": true,
"transcript": "ENST00000682109.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 337,
"aa_ref": "A",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1229,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1014,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000504073.2",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422030.2",
"strand": true,
"transcript": "ENST00000504073.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 319,
"aa_ref": "A",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": 802,
"cds_end": null,
"cds_length": 960,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952405.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Ala257Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622464.1",
"strand": true,
"transcript": "ENST00000952405.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 315,
"aa_ref": "A",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1207,
"cdna_start": 788,
"cds_end": null,
"cds_length": 948,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952406.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Ala253Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622465.1",
"strand": true,
"transcript": "ENST00000952406.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 263,
"aa_ref": "A",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1057,
"cdna_start": 638,
"cds_end": null,
"cds_length": 792,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001135697.3",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Ala201Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129169.1",
"strand": true,
"transcript": "NM_001135697.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 223,
"aa_ref": "A",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": 514,
"cds_end": null,
"cds_length": 672,
"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895795.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Ala161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565854.1",
"strand": true,
"transcript": "ENST00000895795.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 218,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 908,
"cdna_start": 489,
"cds_end": null,
"cds_length": 657,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895797.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565856.1",
"strand": true,
"transcript": "ENST00000895797.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 210,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 454,
"cds_end": null,
"cds_length": 633,
"cds_start": 443,
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