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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: 10-73746996-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73746996&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73746996,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004922.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "NM_198597.3",
"protein_id": "NP_940999.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1094,
"cds_start": 164,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345254.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198597.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000345254.9",
"protein_id": "ENSP00000321845.6",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 1094,
"cds_start": 164,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198597.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345254.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "n.164C>T",
"hgvs_p": null,
"transcript": "ENST00000465076.5",
"protein_id": "ENSP00000437000.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465076.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893972.1",
"protein_id": "ENSP00000564031.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1096,
"cds_start": 164,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893972.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893965.1",
"protein_id": "ENSP00000564024.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1095,
"cds_start": 164,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893965.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "NM_004922.4",
"protein_id": "NP_004913.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1094,
"cds_start": 164,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004922.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000339365.2",
"protein_id": "ENSP00000343405.2",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 1094,
"cds_start": 164,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339365.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893967.1",
"protein_id": "ENSP00000564026.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1094,
"cds_start": 164,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893967.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893970.1",
"protein_id": "ENSP00000564029.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1094,
"cds_start": 164,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893970.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893971.1",
"protein_id": "ENSP00000564030.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1094,
"cds_start": 164,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893971.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000939918.1",
"protein_id": "ENSP00000609977.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1094,
"cds_start": 164,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939918.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000939921.1",
"protein_id": "ENSP00000609980.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1094,
"cds_start": 164,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939921.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893963.1",
"protein_id": "ENSP00000564022.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1092,
"cds_start": 164,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893963.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893966.1",
"protein_id": "ENSP00000564025.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1081,
"cds_start": 164,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893966.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893962.1",
"protein_id": "ENSP00000564021.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1068,
"cds_start": 164,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893962.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893969.1",
"protein_id": "ENSP00000564028.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1068,
"cds_start": 164,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893969.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893961.1",
"protein_id": "ENSP00000564020.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1066,
"cds_start": 164,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893961.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000939923.1",
"protein_id": "ENSP00000609982.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1066,
"cds_start": 164,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939923.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000939925.1",
"protein_id": "ENSP00000609984.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1066,
"cds_start": 164,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939925.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893968.1",
"protein_id": "ENSP00000564027.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1055,
"cds_start": 164,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893968.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000958138.1",
"protein_id": "ENSP00000628197.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1037,
"cds_start": 164,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958138.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24C",
"gene_hgnc_id": 10705,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000893964.1",
"protein_id": "ENSP00000564023.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1030,
"cds_start": 164,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
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],
"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
}