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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: 5-72223690-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=72223690&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MRPS27",
"hgnc_id": 14512,
"hgvs_c": "c.1040G>C",
"hgvs_p": "p.Arg347Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001286748.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.785,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.30808380246162415,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1245,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_015084.3",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.998G>C",
"hgvs_p": "p.Arg333Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261413.10",
"protein_coding": true,
"protein_id": "NP_055899.2",
"strand": false,
"transcript": "NM_015084.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1245,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000261413.10",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.998G>C",
"hgvs_p": "p.Arg333Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015084.3",
"protein_coding": true,
"protein_id": "ENSP00000261413.5",
"strand": false,
"transcript": "ENST00000261413.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 460,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1383,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000695404.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.998G>C",
"hgvs_p": "p.Arg333Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511886.1",
"strand": false,
"transcript": "ENST00000695404.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 436,
"aa_ref": "R",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1064,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000694998.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1064G>C",
"hgvs_p": "p.Arg355Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511636.2",
"strand": false,
"transcript": "ENST00000694998.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 429,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 1053,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926538.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1043G>C",
"hgvs_p": "p.Arg348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596597.1",
"strand": false,
"transcript": "ENST00000926538.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 428,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1040,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001286748.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1040G>C",
"hgvs_p": "p.Arg347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273677.1",
"strand": false,
"transcript": "NM_001286748.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 428,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1040,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000513900.6",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1040G>C",
"hgvs_p": "p.Arg347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426941.1",
"strand": false,
"transcript": "ENST00000513900.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1013,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000953797.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1013G>C",
"hgvs_p": "p.Arg338Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623856.1",
"strand": false,
"transcript": "ENST00000953797.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7518,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1245,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000694989.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.998G>C",
"hgvs_p": "p.Arg333Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511631.1",
"strand": false,
"transcript": "ENST00000694989.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7716,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1245,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000694990.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.998G>C",
"hgvs_p": "p.Arg333Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511632.1",
"strand": false,
"transcript": "ENST00000694990.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 401,
"aa_ref": "R",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1206,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000695403.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.959G>C",
"hgvs_p": "p.Arg320Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511885.1",
"strand": false,
"transcript": "ENST00000695403.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 1188,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000694994.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.941G>C",
"hgvs_p": "p.Arg314Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511933.1",
"strand": false,
"transcript": "ENST00000694994.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 388,
"aa_ref": "R",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1167,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000695298.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.920G>C",
"hgvs_p": "p.Arg307Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511790.1",
"strand": false,
"transcript": "ENST00000695298.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 373,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1122,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000694995.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.875G>C",
"hgvs_p": "p.Arg292Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511935.1",
"strand": false,
"transcript": "ENST00000694995.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2738,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1077,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001286751.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.830G>C",
"hgvs_p": "p.Arg277Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273680.1",
"strand": false,
"transcript": "NM_001286751.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1077,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000457646.9",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.830G>C",
"hgvs_p": "p.Arg277Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428120.2",
"strand": false,
"transcript": "ENST00000457646.9",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 1077,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000519143.6",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.830G>C",
"hgvs_p": "p.Arg277Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511934.1",
"strand": false,
"transcript": "ENST00000519143.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 1077,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000694996.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.830G>C",
"hgvs_p": "p.Arg277Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511936.1",
"strand": false,
"transcript": "ENST00000694996.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 298,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": 889,
"cds_end": null,
"cds_length": 897,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000508863.6",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.830G>C",
"hgvs_p": "p.Arg277Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426176.2",
"strand": false,
"transcript": "ENST00000508863.6",
"transcript_support_level": 3
},
{
"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": 4435,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000515226.5",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "n.2808G>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": "ENST00000515226.5",
"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": 2565,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000522042.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "n.775G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
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