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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: 11-18305438-T-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18305438&ref=T&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18305438,
"ref": "T",
"alt": "TG",
"effect": "frameshift_variant",
"transcript": "ENST00000349215.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.879dupC",
"hgvs_p": "p.Lys294fs",
"transcript": "NM_181507.2",
"protein_id": "NP_852608.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1129,
"cds_start": 879,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "ENST00000349215.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.879dupC",
"hgvs_p": "p.Lys294fs",
"transcript": "ENST00000349215.8",
"protein_id": "ENSP00000265967.5",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 1129,
"cds_start": 879,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "NM_181507.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.537dupC",
"hgvs_p": "p.Lys180fs",
"transcript": "ENST00000396253.7",
"protein_id": "ENSP00000379552.3",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 1015,
"cds_start": 537,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.537dupC",
"hgvs_p": "p.Lys180fs",
"transcript": "ENST00000438420.6",
"protein_id": "ENSP00000399590.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 1015,
"cds_start": 537,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.879dupC",
"hgvs_p": "p.Lys294fs",
"transcript": "NM_001440902.1",
"protein_id": "NP_001427831.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1156,
"cds_start": 879,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.879dupC",
"hgvs_p": "p.Lys294fs",
"transcript": "NM_001440903.1",
"protein_id": "NP_001427832.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1156,
"cds_start": 879,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.879dupC",
"hgvs_p": "p.Lys294fs",
"transcript": "NM_001440904.1",
"protein_id": "NP_001427833.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1148,
"cds_start": 879,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.879dupC",
"hgvs_p": "p.Lys294fs",
"transcript": "NM_001440905.1",
"protein_id": "NP_001427834.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1129,
"cds_start": 879,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.879dupC",
"hgvs_p": "p.Lys294fs",
"transcript": "NM_001440906.1",
"protein_id": "NP_001427835.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1129,
"cds_start": 879,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.804dupC",
"hgvs_p": "p.Lys269fs",
"transcript": "NM_001440907.1",
"protein_id": "NP_001427836.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1104,
"cds_start": 804,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.804dupC",
"hgvs_p": "p.Lys269fs",
"transcript": "NM_001440908.1",
"protein_id": "NP_001427837.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1104,
"cds_start": 804,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.804dupC",
"hgvs_p": "p.Lys269fs",
"transcript": "NM_001440909.1",
"protein_id": "NP_001427838.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1104,
"cds_start": 804,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.768dupC",
"hgvs_p": "p.Lys257fs",
"transcript": "NM_001440913.1",
"protein_id": "NP_001427842.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1092,
"cds_start": 768,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.768dupC",
"hgvs_p": "p.Lys257fs",
"transcript": "NM_001440914.1",
"protein_id": "NP_001427843.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1092,
"cds_start": 768,
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"cdna_start": 881,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.768dupC",
"hgvs_p": "p.Lys257fs",
"transcript": "NM_001440915.1",
"protein_id": "NP_001427844.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1092,
"cds_start": 768,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 4542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.879dupC",
"hgvs_p": "p.Lys294fs",
"transcript": "NM_001440916.1",
"protein_id": "NP_001427845.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1089,
"cds_start": 879,
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"cdna_start": 1123,
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"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.879dupC",
"hgvs_p": "p.Lys294fs",
"transcript": "NM_001440917.1",
"protein_id": "NP_001427846.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 1077,
"cds_start": 879,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.693dupC",
"hgvs_p": "p.Lys232fs",
"transcript": "NM_001440918.1",
"protein_id": "NP_001427847.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 1067,
"cds_start": 693,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 4845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.666dupC",
"hgvs_p": "p.Lys223fs",
"transcript": "NM_001440919.1",
"protein_id": "NP_001427848.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 1058,
"cds_start": 666,
"cds_end": null,
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"cdna_start": 910,
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"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.537dupC",
"hgvs_p": "p.Lys180fs",
"transcript": "NM_001440920.1",
"protein_id": "NP_001427849.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1042,
"cds_start": 537,
"cds_end": null,
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"cdna_start": 835,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.537dupC",
"hgvs_p": "p.Lys180fs",
"transcript": "NM_001440921.1",
"protein_id": "NP_001427850.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1042,
"cds_start": 537,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.537dupC",
"hgvs_p": "p.Lys180fs",
"transcript": "NM_001440922.1",
"protein_id": "NP_001427851.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1042,
"cds_start": 537,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.537dupC",
"hgvs_p": "p.Lys180fs",
"transcript": "NM_001440923.1",
"protein_id": "NP_001427852.1",
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