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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: 5-72221146-GGC-TGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=72221146&ref=GGC&alt=TGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "MRPS27",
"hgnc_id": 14512,
"hgvs_c": "c.1048_1050delGCCinsACA",
"hgvs_p": "p.Ala350Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001286748.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 414,
"aa_ref": "A",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1006,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015084.3",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1006_1008delGCCinsACA",
"hgvs_p": "p.Ala336Thr",
"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": "T",
"aa_end": null,
"aa_length": 414,
"aa_ref": "A",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1006,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261413.10",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1006_1008delGCCinsACA",
"hgvs_p": "p.Ala336Thr",
"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": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1006,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695404.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1006_1008delGCCinsACA",
"hgvs_p": "p.Ala336Thr",
"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": "T",
"aa_end": null,
"aa_length": 436,
"aa_ref": "A",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1072,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694998.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1072_1074delGCCinsACA",
"hgvs_p": "p.Ala358Thr",
"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": "T",
"aa_end": null,
"aa_length": 429,
"aa_ref": "A",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1051,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926538.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1051_1053delGCCinsACA",
"hgvs_p": "p.Ala351Thr",
"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": "T",
"aa_end": null,
"aa_length": 428,
"aa_ref": "A",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1048,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286748.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1048_1050delGCCinsACA",
"hgvs_p": "p.Ala350Thr",
"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": "T",
"aa_end": null,
"aa_length": 428,
"aa_ref": "A",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1048,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513900.6",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1048_1050delGCCinsACA",
"hgvs_p": "p.Ala350Thr",
"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": "T",
"aa_end": null,
"aa_length": 419,
"aa_ref": "A",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1021,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953797.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1021_1023delGCCinsACA",
"hgvs_p": "p.Ala341Thr",
"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": "T",
"aa_end": null,
"aa_length": 414,
"aa_ref": "A",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7518,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1006,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694989.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1006_1008delGCCinsACA",
"hgvs_p": "p.Ala336Thr",
"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": "T",
"aa_end": null,
"aa_length": 414,
"aa_ref": "A",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7716,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1006,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694990.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.1006_1008delGCCinsACA",
"hgvs_p": "p.Ala336Thr",
"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": "T",
"aa_end": null,
"aa_length": 401,
"aa_ref": "A",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1206,
"cds_start": 967,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695403.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.967_969delGCCinsACA",
"hgvs_p": "p.Ala323Thr",
"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": "T",
"aa_end": null,
"aa_length": 395,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1188,
"cds_start": 949,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694994.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.949_951delGCCinsACA",
"hgvs_p": "p.Ala317Thr",
"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": "T",
"aa_end": null,
"aa_length": 388,
"aa_ref": "A",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1167,
"cds_start": 928,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695298.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.928_930delGCCinsACA",
"hgvs_p": "p.Ala310Thr",
"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": "T",
"aa_end": null,
"aa_length": 373,
"aa_ref": "A",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1122,
"cds_start": 883,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694995.1",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.883_885delGCCinsACA",
"hgvs_p": "p.Ala295Thr",
"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": "T",
"aa_end": null,
"aa_length": 358,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2738,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1077,
"cds_start": 838,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286751.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.838_840delGCCinsACA",
"hgvs_p": "p.Ala280Thr",
"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": "T",
"aa_end": null,
"aa_length": 358,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1077,
"cds_start": 838,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457646.9",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.838_840delGCCinsACA",
"hgvs_p": "p.Ala280Thr",
"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": "T",
"aa_end": null,
"aa_length": 358,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1077,
"cds_start": 838,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519143.6",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.838_840delGCCinsACA",
"hgvs_p": "p.Ala280Thr",
"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": "T",
"aa_end": null,
"aa_length": 358,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 1077,
"cds_start": 838,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694996.2",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.838_840delGCCinsACA",
"hgvs_p": "p.Ala280Thr",
"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": "T",
"aa_end": null,
"aa_length": 298,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": 899,
"cds_end": null,
"cds_length": 897,
"cds_start": 838,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508863.6",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "c.838_840delGCCinsACA",
"hgvs_p": "p.Ala280Thr",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000515226.5",
"gene_hgnc_id": 14512,
"gene_symbol": "MRPS27",
"hgvs_c": "n.2816_2818delGCCinsACA",
"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,
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