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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: 13-111238209-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=111238209&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 111238209,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000646102.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.759+4916C>T",
"hgvs_p": null,
"transcript": "NM_001354046.2",
"protein_id": "NP_001340975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": "ENST00000646102.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.759+4916C>T",
"hgvs_p": null,
"transcript": "ENST00000646102.2",
"protein_id": "ENSP00000495631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": "NM_001354046.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.822+4916C>T",
"hgvs_p": null,
"transcript": "ENST00000375741.6",
"protein_id": "ENSP00000364893.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": -4,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.759+4916C>T",
"hgvs_p": null,
"transcript": "ENST00000317133.9",
"protein_id": "ENSP00000325994.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.672+4916C>T",
"hgvs_p": null,
"transcript": "ENST00000375739.6",
"protein_id": "ENSP00000364891.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": -4,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.288+4916C>T",
"hgvs_p": null,
"transcript": "ENST00000375736.8",
"protein_id": "ENSP00000364888.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": -4,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
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"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.288+4916C>T",
"hgvs_p": null,
"transcript": "ENST00000426073.6",
"protein_id": "ENSP00000397068.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": -4,
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"cds_length": 1941,
"cdna_start": null,
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"cdna_length": 4921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.822+4916C>T",
"hgvs_p": null,
"transcript": "NM_001113511.2",
"protein_id": "NP_001106983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": -4,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.759+4916C>T",
"hgvs_p": null,
"transcript": "NM_001320852.1",
"protein_id": "NP_001307781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
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"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
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"hgvs_c": "c.759+4916C>T",
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"transcript": "ENST00000700426.1",
"protein_id": "ENSP00000514984.1",
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGEF7",
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"hgvs_c": "c.759+4916C>T",
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"transcript": "NM_145735.3",
"protein_id": "NP_663788.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "ARHGEF7",
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"transcript": "NM_001320853.2",
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},
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],
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"gene_symbol": "ARHGEF7",
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},
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],
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"gene_symbol": "ARHGEF7",
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"transcript": "NM_001354048.1",
"protein_id": "NP_001340977.1",
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},
{
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],
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"intron_rank": 6,
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],
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"gene_symbol": "ARHGEF7",
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"hgvs_c": "c.288+4916C>T",
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"transcript": "NM_001354050.2",
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},
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],
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"intron_rank": 5,
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"gene_symbol": "ARHGEF7",
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"hgvs_c": "c.288+4916C>T",
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"transcript": "NM_001354051.2",
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],
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"gene_symbol": "ARHGEF7",
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},
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"strand": true,
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],
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"intron_rank": 4,
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"gene_symbol": "ARHGEF7",
"gene_hgnc_id": 15607,
"hgvs_c": "c.288+4916C>T",
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"transcript": "NM_001320851.2",
"protein_id": "NP_001307780.1",
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},
{
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"consequences": [
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],
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"exon_count": 21,
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"gene_symbol": "ARHGEF7",
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"hgvs_c": "c.288+4916C>T",
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"transcript": "NM_001354052.2",
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