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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: 7-122698916-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=122698916&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 122698916,
"ref": "C",
"alt": "G",
"effect": "start_lost",
"transcript": "ENST00000340112.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF133",
"gene_hgnc_id": 21154,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_139175.2",
"protein_id": "NP_631914.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 376,
"cds_start": 3,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": "ENST00000340112.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF133",
"gene_hgnc_id": 21154,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000340112.3",
"protein_id": "ENSP00000344489.2",
"transcript_support_level": 6,
"aa_start": 1,
"aa_end": null,
"aa_length": 376,
"cds_start": 3,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": "NM_139175.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "NM_017954.11",
"protein_id": "NP_060424.9",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": -4,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5768,
"mane_select": "ENST00000449022.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "ENST00000449022.7",
"protein_id": "ENSP00000398481.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": -4,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5768,
"mane_select": "NM_017954.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "ENST00000412584.6",
"protein_id": "ENSP00000400401.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1255,
"cds_start": -4,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "NM_001363389.2",
"protein_id": "NP_001350318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": -4,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "NM_001363390.2",
"protein_id": "NP_001350319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": -4,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "NM_001167940.2",
"protein_id": "NP_001161412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": -4,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "NM_001363391.2",
"protein_id": "NP_001350320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": -4,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "NM_001363392.2",
"protein_id": "NP_001350321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": -4,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "NM_001363393.2",
"protein_id": "NP_001350322.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1263,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CADPS2",
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"transcript": "NM_001363394.2",
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"cds_start": -4,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 2,
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"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
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"transcript": "NM_001363395.2",
"protein_id": "NP_001350324.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 2,
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"gene_symbol": "CADPS2",
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"hgvs_c": "c.454-35347G>C",
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},
{
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"strand": false,
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],
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"gene_symbol": "CADPS2",
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"transcript": "NM_001009571.4",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "CADPS2",
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"hgvs_c": "c.454-35347G>C",
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"transcript": "NM_001363397.2",
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},
{
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],
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"gene_symbol": "CADPS2",
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"hgvs_c": "c.454-35347G>C",
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"transcript": "NM_001363398.2",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.136-35347G>C",
"hgvs_p": null,
"transcript": "ENST00000313070.11",
"protein_id": "ENSP00000325581.8",
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},
{
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"protein_coding": true,
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],
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"intron_rank_end": null,
"gene_symbol": "CADPS2",
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"hgvs_c": "c.-30-35347G>C",
"hgvs_p": null,
"transcript": "NM_001363399.2",
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},
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],
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},
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],
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "XM_005250697.6",
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CADPS2",
"gene_hgnc_id": 16018,
"hgvs_c": "c.454-35347G>C",
"hgvs_p": null,
"transcript": "XM_005250699.6",
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}