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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: 11-16840936-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=16840936&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 16840936,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000531066.6",
"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": 27,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.872+611G>T",
"hgvs_p": null,
"transcript": "NM_001329630.2",
"protein_id": "NP_001316559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1271,
"cds_start": -4,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": "ENST00000531066.6",
"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": 27,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.872+611G>T",
"hgvs_p": null,
"transcript": "ENST00000531066.6",
"protein_id": "ENSP00000435389.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1271,
"cds_start": -4,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": "NM_001329630.2",
"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": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.872+611G>T",
"hgvs_p": null,
"transcript": "ENST00000355661.7",
"protein_id": "ENSP00000347883.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1121,
"cds_start": -4,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4980,
"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": 27,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.872+611G>T",
"hgvs_p": null,
"transcript": "NM_001410960.1",
"protein_id": "NP_001397889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1272,
"cds_start": -4,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5533,
"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": 27,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.872+611G>T",
"hgvs_p": null,
"transcript": "ENST00000698836.1",
"protein_id": "ENSP00000513972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1272,
"cds_start": -4,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5389,
"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": 23,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.566+611G>T",
"hgvs_p": null,
"transcript": "ENST00000637162.1",
"protein_id": "ENSP00000489780.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3602,
"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": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.872+611G>T",
"hgvs_p": null,
"transcript": "NM_001329631.2",
"protein_id": "NP_001316560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1122,
"cds_start": -4,
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"cds_length": 3369,
"cdna_start": null,
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"cdna_length": 4987,
"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": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.872+611G>T",
"hgvs_p": null,
"transcript": "NM_175058.5",
"protein_id": "NP_778228.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1121,
"cds_start": -4,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4984,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.743+611G>T",
"hgvs_p": null,
"transcript": "ENST00000696749.1",
"protein_id": "ENSP00000512848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1078,
"cds_start": -4,
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"cds_length": 3237,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "PLEKHA7",
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"hgvs_c": "c.82-51067G>T",
"hgvs_p": null,
"transcript": "ENST00000532079.1",
"protein_id": "ENSP00000434812.1",
"transcript_support_level": 5,
"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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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "PLEKHA7",
"gene_hgnc_id": 27049,
"hgvs_c": "c.872+611G>T",
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"transcript": "XM_047426426.1",
"protein_id": "XP_047282382.1",
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},
{
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],
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"gene_symbol": "PLEKHA7",
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],
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"gene_symbol": "PLEKHA7",
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"hgvs_c": "c.872+611G>T",
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],
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"gene_symbol": "PLEKHA7",
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],
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},
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],
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"gene_symbol": "PLEKHA7",
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],
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},
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],
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"gene_symbol": "PLEKHA7",
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