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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: 13-43298510-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=43298510&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 43298510,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001347963.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "NM_001347969.2",
"protein_id": "NP_001334898.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000690772.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347969.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000690772.1",
"protein_id": "ENSP00000509229.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001347969.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690772.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000261488.10",
"protein_id": "ENSP00000261488.6",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261488.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "NM_001347963.2",
"protein_id": "NP_001334892.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 678,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347963.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "NM_001127615.3",
"protein_id": "NP_001121087.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127615.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "NM_001242863.3",
"protein_id": "NP_001229792.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242863.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "NM_001347964.2",
"protein_id": "NP_001334893.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347964.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "NM_001347965.2",
"protein_id": "NP_001334894.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347965.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "NM_001347966.2",
"protein_id": "NP_001334895.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347966.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "NM_001347967.2",
"protein_id": "NP_001334896.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347967.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "NM_001347968.2",
"protein_id": "NP_001334897.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347968.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "NM_017993.5",
"protein_id": "NP_060463.2",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017993.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000871211.1",
"protein_id": "ENSP00000541270.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871211.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000871216.1",
"protein_id": "ENSP00000541275.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871216.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000871217.1",
"protein_id": "ENSP00000541276.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871217.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000871218.1",
"protein_id": "ENSP00000541277.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871218.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000871219.1",
"protein_id": "ENSP00000541278.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871219.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000871220.1",
"protein_id": "ENSP00000541279.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871220.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000871221.1",
"protein_id": "ENSP00000541280.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871221.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000871222.1",
"protein_id": "ENSP00000541281.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871222.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000941812.1",
"protein_id": "ENSP00000611871.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941812.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Ala428Thr",
"transcript": "ENST00000941813.1",
"protein_id": "ENSP00000611872.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 643,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}