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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: 12-54399889-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=54399889&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 54399889,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002205.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2702C>T",
"hgvs_p": "p.Ser901Phe",
"transcript": "NM_002205.5",
"protein_id": "NP_002196.4",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2702,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2770,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": "ENST00000293379.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002205.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2702C>T",
"hgvs_p": "p.Ser901Phe",
"transcript": "ENST00000293379.9",
"protein_id": "ENSP00000293379.4",
"transcript_support_level": 1,
"aa_start": 901,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2702,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2770,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": "NM_002205.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293379.9"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2756C>T",
"hgvs_p": "p.Ser919Phe",
"transcript": "ENST00000945317.1",
"protein_id": "ENSP00000615376.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2756,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945317.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2729C>T",
"hgvs_p": "p.Ser910Phe",
"transcript": "ENST00000945318.1",
"protein_id": "ENSP00000615377.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2729,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945318.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2726C>T",
"hgvs_p": "p.Ser909Phe",
"transcript": "ENST00000945319.1",
"protein_id": "ENSP00000615378.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2753,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945319.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2726C>T",
"hgvs_p": "p.Ser909Phe",
"transcript": "ENST00000945322.1",
"protein_id": "ENSP00000615381.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2733,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945322.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2711C>T",
"hgvs_p": "p.Ser904Phe",
"transcript": "ENST00000945320.1",
"protein_id": "ENSP00000615379.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2711,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 2731,
"cdna_end": null,
"cdna_length": 4209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945320.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2696C>T",
"hgvs_p": "p.Ser899Phe",
"transcript": "ENST00000945321.1",
"protein_id": "ENSP00000615380.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2696,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945321.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Ser874Phe",
"transcript": "ENST00000854882.1",
"protein_id": "ENSP00000524941.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2621,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 2643,
"cdna_end": null,
"cdna_length": 4111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854882.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2498C>T",
"hgvs_p": "p.Ser833Phe",
"transcript": "ENST00000854881.1",
"protein_id": "ENSP00000524940.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 981,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2566,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854881.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.23C>T",
"hgvs_p": "p.Ser8Phe",
"transcript": "ENST00000547197.1",
"protein_id": "ENSP00000450267.1",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 118,
"cds_start": 23,
"cds_end": null,
"cds_length": 357,
"cdna_start": 25,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547197.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ser397Phe",
"transcript": "XM_024448970.2",
"protein_id": "XP_024304738.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 545,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2795,
"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": 25,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "c.2644-131C>T",
"hgvs_p": null,
"transcript": "ENST00000854883.1",
"protein_id": "ENSP00000524942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1021,
"cds_start": null,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "n.970C>T",
"hgvs_p": null,
"transcript": "ENST00000552387.1",
"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": 1333,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000552387.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "n.25C>T",
"hgvs_p": null,
"transcript": "ENST00000552431.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 588,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000552431.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA5",
"gene_hgnc_id": 6141,
"hgvs_c": "n.3411C>T",
"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": 4996,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000552564.5"
},
{
"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.48-27968G>A",
"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": 564,
"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.106-7508G>A",
"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": 546,
"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+8345G>A",
"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": 573,
"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.214-27968G>A",
"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": 505,
"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.176-27968G>A",
"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": 467,
"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.461-27968G>A",
"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": 802,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000795926.1"
},
{
"aa_ref": null,
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"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
}