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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: 7-130401961-GAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130401961&ref=GAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 130401961,
"ref": "GAA",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000223208.10",
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.575-15_575-14delTT",
"hgvs_p": null,
"transcript": "NM_018718.3",
"protein_id": "NP_061188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6292,
"mane_select": "ENST00000223208.10",
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.575-15_575-14delTT",
"hgvs_p": null,
"transcript": "ENST00000223208.10",
"protein_id": "ENSP00000223208.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6292,
"mane_select": "NM_018718.3",
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.575-15_575-14delTT",
"hgvs_p": null,
"transcript": "ENST00000343969.10",
"protein_id": "ENSP00000342738.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.*747-15_*747-14delTT",
"hgvs_p": null,
"transcript": "ENST00000484549.6",
"protein_id": "ENSP00000419078.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1868,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.620-15_620-14delTT",
"hgvs_p": null,
"transcript": "ENST00000675138.1",
"protein_id": "ENSP00000501597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1190,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.575-15_575-14delTT",
"hgvs_p": null,
"transcript": "ENST00000676243.1",
"protein_id": "ENSP00000501717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": -4,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2541,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.566-15_566-14delTT",
"hgvs_p": null,
"transcript": "ENST00000541543.6",
"protein_id": "ENSP00000445888.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6246,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.566-15_566-14delTT",
"hgvs_p": null,
"transcript": "ENST00000675935.1",
"protein_id": "ENSP00000501731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1272,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.536-15_536-14delTT",
"hgvs_p": null,
"transcript": "ENST00000675803.1",
"protein_id": "ENSP00000502477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1700,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.536-15_536-14delTT",
"hgvs_p": null,
"transcript": "ENST00000676312.1",
"protein_id": "ENSP00000502312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.527-15_527-14delTT",
"hgvs_p": null,
"transcript": "ENST00000675168.1",
"protein_id": "ENSP00000501563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"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": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CEP41",
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"hgvs_c": "c.788-15_788-14delTT",
"hgvs_p": null,
"transcript": "ENST00000471201.6",
"protein_id": "ENSP00000417463.2",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
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"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.575-15_575-14delTT",
"hgvs_p": null,
"transcript": "ENST00000480206.2",
"protein_id": "ENSP00000502099.1",
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"cds_start": -4,
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},
{
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"strand": false,
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],
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"gene_symbol": "CEP41",
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"hgvs_c": "c.574+685_574+686delTT",
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"transcript": "ENST00000675649.1",
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},
{
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],
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"gene_symbol": "CEP41",
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"hgvs_c": "c.575-15_575-14delTT",
"hgvs_p": null,
"transcript": "NM_001257158.2",
"protein_id": "NP_001244087.1",
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},
{
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"consequences": [
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],
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"intron_rank": 7,
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"gene_symbol": "CEP41",
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"hgvs_c": "c.575-15_575-14delTT",
"hgvs_p": null,
"transcript": "ENST00000675596.1",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "CEP41",
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"hgvs_c": "c.527-15_527-14delTT",
"hgvs_p": null,
"transcript": "NM_001257159.2",
"protein_id": "NP_001244088.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP41",
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"hgvs_c": "c.527-15_527-14delTT",
"hgvs_p": null,
"transcript": "ENST00000675962.1",
"protein_id": "ENSP00000502478.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
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"intron_rank": 6,
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"gene_symbol": "CEP41",
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"hgvs_c": "c.470-15_470-14delTT",
"hgvs_p": null,
"transcript": "ENST00000472739.6",
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},
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],
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"gene_symbol": "CEP41",
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},
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],
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"gene_symbol": "CEP41",
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"hgvs_c": "c.-35-15_-35-14delTT",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.422+2601_422+2602delTT",
"hgvs_p": null,
"transcript": "ENST00000674539.1",
"protein_id": "ENSP00000502834.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.*177-15_*177-14delTT",
"hgvs_p": null,
"transcript": "ENST00000477003.6",
"protein_id": "ENSP00000420670.2",
"transcript_support_level": 4,
"aa_start": null,
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