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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: 12-111556082-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111556082&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 111556082,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001372574.1",
"consequences": [
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "NM_001372574.1",
"protein_id": "NP_001359503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1155,
"cds_start": null,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673436.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000673436.1",
"protein_id": "ENSP00000500925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1155,
"cds_start": null,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372574.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673436.1"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.732-163T>C",
"hgvs_p": null,
"transcript": "ENST00000550104.5",
"protein_id": "ENSP00000446576.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1313,
"cds_start": null,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550104.5"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000608853.5",
"protein_id": "ENSP00000476504.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1153,
"cds_start": null,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608853.5"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.-64-163T>C",
"hgvs_p": null,
"transcript": "ENST00000542287.6",
"protein_id": "ENSP00000445583.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": null,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542287.6"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.-27-1865T>C",
"hgvs_p": null,
"transcript": "ENST00000535949.5",
"protein_id": "ENSP00000439338.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": null,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535949.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "n.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000483311.6",
"protein_id": "ENSP00000446512.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000483311.6"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000918152.1",
"protein_id": "ENSP00000588211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1190,
"cds_start": null,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918152.1"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000890909.1",
"protein_id": "ENSP00000560968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1180,
"cds_start": null,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890909.1"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000673449.1",
"protein_id": "ENSP00000500646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": null,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673449.1"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000890906.1",
"protein_id": "ENSP00000560965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": null,
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"cds_length": 3537,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890906.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000890911.1",
"protein_id": "ENSP00000560970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1176,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890911.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000673557.1",
"protein_id": "ENSP00000500766.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cds_length": 3504,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673557.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000643669.2",
"protein_id": "ENSP00000494663.1",
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"biotype": "protein_coding",
"feature": "ENST00000643669.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000890900.1",
"protein_id": "ENSP00000560959.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1165,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890900.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 1,
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"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000890901.1",
"protein_id": "ENSP00000560960.1",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890901.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000890904.1",
"protein_id": "ENSP00000560963.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1160,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890904.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "NM_002973.4",
"protein_id": "NP_002964.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_002973.4"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000672613.1",
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"feature": "ENST00000672613.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000890899.1",
"protein_id": "ENSP00000560958.1",
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"biotype": "protein_coding",
"feature": "ENST00000890899.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000890889.1",
"protein_id": "ENSP00000560948.1",
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"aa_start": null,
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"aa_length": 1137,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890889.1"
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.252-163T>C",
"hgvs_p": null,
"transcript": "ENST00000890891.1",
"protein_id": "ENSP00000560950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
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