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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: 12-54401586-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=54401586&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 54401586,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002205.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Gly796Ser",
"transcript": "NM_002205.5",
"protein_id": "NP_002196.4",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2386,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293379.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002205.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Gly796Ser",
"transcript": "ENST00000293379.9",
"protein_id": "ENSP00000293379.4",
"transcript_support_level": 1,
"aa_start": 796,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2386,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002205.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293379.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2440G>A",
"hgvs_p": "p.Gly814Ser",
"transcript": "ENST00000945317.1",
"protein_id": "ENSP00000615376.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2440,
"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": "ENST00000945317.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2413G>A",
"hgvs_p": "p.Gly805Ser",
"transcript": "ENST00000945318.1",
"protein_id": "ENSP00000615377.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2413,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945318.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2410G>A",
"hgvs_p": "p.Gly804Ser",
"transcript": "ENST00000945319.1",
"protein_id": "ENSP00000615378.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2410,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945319.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2410G>A",
"hgvs_p": "p.Gly804Ser",
"transcript": "ENST00000945322.1",
"protein_id": "ENSP00000615381.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2410,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945322.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2405G>A",
"hgvs_p": "p.Arg802Gln",
"transcript": "ENST00000945320.1",
"protein_id": "ENSP00000615379.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2405,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945320.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2380G>A",
"hgvs_p": "p.Gly794Ser",
"transcript": "ENST00000945321.1",
"protein_id": "ENSP00000615380.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2380,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945321.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Gly796Ser",
"transcript": "ENST00000854883.1",
"protein_id": "ENSP00000524942.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2386,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854883.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2182G>A",
"hgvs_p": "p.Gly728Ser",
"transcript": "ENST00000854881.1",
"protein_id": "ENSP00000524940.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 981,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854881.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Ser",
"transcript": "XM_024448970.2",
"protein_id": "XP_024304738.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 545,
"cds_start": 874,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448970.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2307-108G>A",
"hgvs_p": null,
"transcript": "ENST00000854882.1",
"protein_id": "ENSP00000524941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1022,
"cds_start": null,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "n.2197G>A",
"hgvs_p": null,
"transcript": "ENST00000552564.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000552564.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "n.542G>A",
"hgvs_p": null,
"transcript": "ENST00000552583.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000552583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPR84-AS1",
"gene_hgnc_id": 56187,
"hgvs_c": "n.48-26271C>T",
"hgvs_p": null,
"transcript": "ENST00000550474.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000550474.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPR84-AS1",
"gene_hgnc_id": 56187,
"hgvs_c": "n.106-5811C>T",
"hgvs_p": null,
"transcript": "ENST00000552785.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000552785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPR84-AS1",
"gene_hgnc_id": 56187,
"hgvs_c": "n.167+10042C>T",
"hgvs_p": null,
"transcript": "ENST00000688443.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000688443.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPR84-AS1",
"gene_hgnc_id": 56187,
"hgvs_c": "n.214-26271C>T",
"hgvs_p": null,
"transcript": "ENST00000795924.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000795924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPR84-AS1",
"gene_hgnc_id": 56187,
"hgvs_c": "n.176-26271C>T",
"hgvs_p": null,
"transcript": "ENST00000795925.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000795925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPR84-AS1",
"gene_hgnc_id": 56187,
"hgvs_c": "n.461-26271C>T",
"hgvs_p": null,
"transcript": "ENST00000795926.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000795926.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPR84-AS1",
"gene_hgnc_id": 56187,
"hgvs_c": "n.93-26271C>T",
"hgvs_p": null,
"transcript": "ENST00000795927.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000795927.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPR84-AS1",
"gene_hgnc_id": 56187,
"hgvs_c": "n.134+10042C>T",
"hgvs_p": null,
"transcript": "ENST00000795929.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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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
}