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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: 16-10922188-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10922188&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10922188,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000324288.14",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3171C>A",
"hgvs_p": "p.Cys1057*",
"transcript": "NM_000246.4",
"protein_id": "NP_000237.2",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 16061,
"mane_select": "ENST00000324288.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3171C>A",
"hgvs_p": "p.Cys1057*",
"transcript": "ENST00000324288.14",
"protein_id": "ENSP00000316328.8",
"transcript_support_level": 1,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 16061,
"mane_select": "NM_000246.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.1419C>A",
"hgvs_p": "p.Cys473*",
"transcript": "ENST00000381835.9",
"protein_id": "ENSP00000371257.5",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 546,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3174C>A",
"hgvs_p": "p.Cys1058*",
"transcript": "NM_001286402.1",
"protein_id": "NP_001273331.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3174C>A",
"hgvs_p": "p.Cys1058*",
"transcript": "NM_001379332.1",
"protein_id": "NP_001366261.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3174C>A",
"hgvs_p": "p.Cys1058*",
"transcript": "ENST00000618327.4",
"protein_id": "ENSP00000485010.1",
"transcript_support_level": 2,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3171C>A",
"hgvs_p": "p.Cys1057*",
"transcript": "NM_001379333.1",
"protein_id": "NP_001366262.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 4823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3102C>A",
"hgvs_p": "p.Cys1034*",
"transcript": "NM_001379334.1",
"protein_id": "NP_001366263.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3198,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3027C>A",
"hgvs_p": "p.Cys1009*",
"transcript": "NM_001379330.1",
"protein_id": "NP_001366259.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3027,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 3156,
"cdna_end": null,
"cdna_length": 4679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3024C>A",
"hgvs_p": "p.Cys1008*",
"transcript": "NM_001379331.1",
"protein_id": "NP_001366260.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1081,
"cds_start": 3024,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 3153,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.1419C>A",
"hgvs_p": "p.Cys473*",
"transcript": "NM_001286403.2",
"protein_id": "NP_001273332.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 546,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 14309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.21C>A",
"hgvs_p": "p.Cys7*",
"transcript": "ENST00000646979.1",
"protein_id": "ENSP00000496240.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 80,
"cds_start": 21,
"cds_end": null,
"cds_length": 243,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3468C>A",
"hgvs_p": "p.Cys1156*",
"transcript": "XM_006720880.4",
"protein_id": "XP_006720943.2",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3468,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3468C>A",
"hgvs_p": "p.Cys1156*",
"transcript": "XM_011522484.4",
"protein_id": "XP_011520786.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3468,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 16250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3468C>A",
"hgvs_p": "p.Cys1156*",
"transcript": "XM_011522485.3",
"protein_id": "XP_011520787.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3468,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 5569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3174C>A",
"hgvs_p": "p.Cys1058*",
"transcript": "XM_047434120.1",
"protein_id": "XP_047290076.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3174,
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"cdna_start": 3307,
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"cdna_length": 5387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3171C>A",
"hgvs_p": "p.Cys1057*",
"transcript": "XM_047434122.1",
"protein_id": "XP_047290078.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 3304,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3102C>A",
"hgvs_p": "p.Cys1034*",
"transcript": "XM_047434116.1",
"protein_id": "XP_047290072.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3198,
"cdna_end": null,
"cdna_length": 15959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3102C>A",
"hgvs_p": "p.Cys1034*",
"transcript": "XM_047434117.1",
"protein_id": "XP_047290073.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3102,
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"cdna_start": 3198,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3102C>A",
"hgvs_p": "p.Cys1034*",
"transcript": "XM_047434123.1",
"protein_id": "XP_047290079.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3102,
"cds_end": null,
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"cdna_start": 3236,
"cdna_end": null,
"cdna_length": 15997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3099C>A",
"hgvs_p": "p.Cys1033*",
"transcript": "XM_011522490.3",
"protein_id": "XP_011520792.2",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3099,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 3195,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.3099C>A",
"hgvs_p": "p.Cys1033*",
"transcript": "XM_047434114.1",
"protein_id": "XP_047290070.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3099,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 3362,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
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}