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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: 13-113060639-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113060639&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113060639,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438390.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Met",
"transcript": "NM_001112732.3",
"protein_id": "NP_001106203.2",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1125,
"cds_start": 416,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000535094.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001112732.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Met",
"transcript": "ENST00000535094.7",
"protein_id": "ENSP00000440374.2",
"transcript_support_level": 2,
"aa_start": 139,
"aa_end": null,
"aa_length": 1125,
"cds_start": 416,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001112732.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535094.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Thr143Met",
"transcript": "ENST00000421756.5",
"protein_id": "ENSP00000397285.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 1067,
"cds_start": 428,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421756.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Thr137Met",
"transcript": "ENST00000375597.8",
"protein_id": "ENSP00000364747.4",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 984,
"cds_start": 410,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375597.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "NM_001438390.1",
"protein_id": "NP_001425319.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1214,
"cds_start": 515,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438390.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "NM_001438391.1",
"protein_id": "NP_001425320.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1211,
"cds_start": 506,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438391.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Met",
"transcript": "ENST00000884942.1",
"protein_id": "ENSP00000555001.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1203,
"cds_start": 416,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884942.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Met",
"transcript": "ENST00000884941.1",
"protein_id": "ENSP00000555000.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1197,
"cds_start": 416,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884941.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Met",
"transcript": "ENST00000884943.1",
"protein_id": "ENSP00000555002.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1195,
"cds_start": 416,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884943.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "NM_001438759.1",
"protein_id": "NP_001425688.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1183,
"cds_start": 515,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438759.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Met",
"transcript": "NM_001437889.1",
"protein_id": "NP_001424818.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1181,
"cds_start": 416,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437889.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Met",
"transcript": "ENST00000453297.6",
"protein_id": "ENSP00000392953.2",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 1181,
"cds_start": 416,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453297.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "NM_001438392.1",
"protein_id": "NP_001425321.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1180,
"cds_start": 506,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438392.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Thr137Met",
"transcript": "NM_001438760.1",
"protein_id": "NP_001425689.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 1179,
"cds_start": 410,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438760.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Thr121Met",
"transcript": "NM_001438761.1",
"protein_id": "NP_001425690.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1163,
"cds_start": 362,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438761.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "NM_001438762.1",
"protein_id": "NP_001425691.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1158,
"cds_start": 515,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438762.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "NM_001438393.1",
"protein_id": "NP_001425322.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1155,
"cds_start": 506,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438393.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Met",
"transcript": "NM_001438763.1",
"protein_id": "NP_001425692.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1150,
"cds_start": 416,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438763.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Thr137Met",
"transcript": "NM_001320815.2",
"protein_id": "NP_001307744.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 1148,
"cds_start": 410,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320815.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Thr130Met",
"transcript": "ENST00000420013.6",
"protein_id": "ENSP00000404422.2",
"transcript_support_level": 4,
"aa_start": 130,
"aa_end": null,
"aa_length": 1141,
"cds_start": 389,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420013.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Met",
"transcript": "ENST00000920919.1",
"protein_id": "ENSP00000590978.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1140,
"cds_start": 416,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920919.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCF2L",
"gene_hgnc_id": 14576,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Met",
"transcript": "ENST00000375608.7",
"protein_id": "ENSP00000364758.3",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 1137,
"cds_start": 506,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"verdict": "Uncertain_significance",
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"gene_symbol": "MCF2L",
"hgnc_id": 14576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}