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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: 20-57523344-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=57523344&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 57523344,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000243914.8",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "NM_001386993.1",
"protein_id": "NP_001373922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": -4,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": "ENST00000243914.8",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "ENST00000243914.8",
"protein_id": "ENSP00000243914.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": -4,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": "NM_001386993.1",
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "ENST00000423479.7",
"protein_id": "ENSP00000415579.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2478,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "ENST00000608440.5",
"protein_id": "ENSP00000477488.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 665,
"cds_start": -4,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2749,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "ENST00000371196.6",
"protein_id": "ENSP00000360239.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": -4,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3491,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "ENST00000608263.5",
"protein_id": "ENSP00000476783.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": -4,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4040,
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "ENST00000609232.5",
"protein_id": "ENSP00000476398.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": -4,
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"cds_length": 1992,
"cdna_start": null,
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"cdna_length": 3668,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "ENST00000608425.5",
"protein_id": "ENSP00000476458.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 627,
"cds_start": -4,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2915,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "ENST00000429804.7",
"protein_id": "ENSP00000415329.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": -4,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3864,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "ENST00000422869.6",
"protein_id": "ENSP00000399061.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.544-66A>G",
"hgvs_p": null,
"transcript": "ENST00000432255.6",
"protein_id": "ENSP00000409344.2",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "CTCFL",
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"transcript": "ENST00000433949.7",
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},
{
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],
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"gene_symbol": "CTCFL",
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"hgvs_c": "c.-72-66A>G",
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"transcript": "ENST00000539382.5",
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},
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],
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"gene_symbol": "CTCFL",
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"hgvs_c": "c.544-66A>G",
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"transcript": "ENST00000481655.2",
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],
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "CTCFL",
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"transcript": "ENST00000502686.6",
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "CTCFL",
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"hgvs_c": "n.544-66A>G",
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"transcript": "ENST00000422109.6",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "CTCFL",
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"transcript": "ENST00000426658.6",
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],
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],
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],
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "CTCFL",
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"hgvs_c": "n.80+1684A>G",
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},
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"consequences": [
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