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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: 17-16181671-A-AACAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=16181671&ref=A&alt=AACAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 16181671,
"ref": "A",
"alt": "AACAC",
"effect": "intron_variant",
"transcript": "ENST00000268712.8",
"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": 46,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.242+4879_242+4882dupGTGT",
"hgvs_p": null,
"transcript": "NM_006311.4",
"protein_id": "NP_006302.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2440,
"cds_start": -4,
"cds_end": null,
"cds_length": 7323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10705,
"mane_select": "ENST00000268712.8",
"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": 46,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.242+4882_242+4883insGTGT",
"hgvs_p": null,
"transcript": "ENST00000268712.8",
"protein_id": "ENSP00000268712.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2440,
"cds_start": -4,
"cds_end": null,
"cds_length": 7323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10705,
"mane_select": "NM_006311.4",
"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": 47,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.242+4882_242+4883insGTGT",
"hgvs_p": null,
"transcript": "ENST00000436068.2",
"protein_id": "ENSP00000389839.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2514,
"cds_start": -4,
"cds_end": null,
"cds_length": 7545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11039,
"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": 45,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.242+4882_242+4883insGTGT",
"hgvs_p": null,
"transcript": "ENST00000395851.5",
"protein_id": "ENSP00000379192.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2337,
"cds_start": -4,
"cds_end": null,
"cds_length": 7014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7950,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.108+12790_108+12791insGTGT",
"hgvs_p": null,
"transcript": "ENST00000395848.5",
"protein_id": "ENSP00000379189.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3106,
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.242+4882_242+4883insGTGT",
"hgvs_p": null,
"transcript": "ENST00000582357.5",
"protein_id": "ENSP00000462308.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": -4,
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"cds_length": 1639,
"cdna_start": null,
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"cdna_length": 1877,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.242+4882_242+4883insGTGT",
"hgvs_p": null,
"transcript": "ENST00000411510.5",
"protein_id": "ENSP00000407998.1",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 544,
"cds_start": -4,
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"cds_length": 1637,
"cdna_start": null,
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"cdna_length": 1883,
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.242+4882_242+4883insGTGT",
"hgvs_p": null,
"transcript": "ENST00000436828.5",
"protein_id": "ENSP00000387727.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1969,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "n.150+12790_150+12791insGTGT",
"hgvs_p": null,
"transcript": "ENST00000579974.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "NCOR1",
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"hgvs_c": "n.499+4882_499+4883insGTGT",
"hgvs_p": null,
"transcript": "ENST00000585296.1",
"protein_id": null,
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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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"gene_symbol": "NCOR1",
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"hgvs_c": "c.242+4879_242+4882dupGTGT",
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"transcript": "NM_001439111.1",
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},
{
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],
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},
{
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"consequences": [
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],
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"gene_symbol": "NCOR1",
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},
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],
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"gene_symbol": "NCOR1",
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],
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"gene_symbol": "NCOR1",
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"hgvs_c": "c.242+4879_242+4882dupGTGT",
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},
{
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],
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],
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},
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],
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"gene_symbol": "NCOR1",
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],
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"gene_symbol": "NCOR1",
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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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"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "n.242+4882_242+4883insGTGT",
"hgvs_p": null,
"transcript": "ENST00000460276.5",
"protein_id": "ENSP00000462794.1",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "NCOR1",
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"hgvs_c": "c.242+4879_242+4882dupGTGT",
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"transcript": "XM_005256866.6",
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