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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: 6-31965384-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31965384&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31965384,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000375394.7",
"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": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.1972-399G>A",
"hgvs_p": null,
"transcript": "NM_006929.5",
"protein_id": "NP_008860.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1246,
"cds_start": -4,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": "ENST00000375394.7",
"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": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.1972-399G>A",
"hgvs_p": null,
"transcript": "ENST00000375394.7",
"protein_id": "ENSP00000364543.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1246,
"cds_start": -4,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": "NM_006929.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.2471-399G>A",
"hgvs_p": null,
"transcript": "ENST00000465703.5",
"protein_id": null,
"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": 4507,
"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": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.2008-399G>A",
"hgvs_p": null,
"transcript": "ENST00000697840.1",
"protein_id": "ENSP00000513458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1258,
"cds_start": -4,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3822,
"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": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.1972-399G>A",
"hgvs_p": null,
"transcript": "ENST00000697831.1",
"protein_id": "ENSP00000513453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": -4,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3814,
"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": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.1837-399G>A",
"hgvs_p": null,
"transcript": "ENST00000697838.1",
"protein_id": "ENSP00000513457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": -4,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3706,
"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": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.1972-399G>A",
"hgvs_p": null,
"transcript": "ENST00000491994.2",
"protein_id": "ENSP00000417586.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.*991-399G>A",
"hgvs_p": null,
"transcript": "ENST00000461073.6",
"protein_id": "ENSP00000419905.1",
"transcript_support_level": 2,
"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": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.*1344-399G>A",
"hgvs_p": null,
"transcript": "ENST00000474839.5",
"protein_id": "ENSP00000420470.1",
"transcript_support_level": 2,
"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": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.1972-399G>A",
"hgvs_p": null,
"transcript": "ENST00000483553.6",
"protein_id": "ENSP00000420332.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.2013-399G>A",
"hgvs_p": null,
"transcript": "ENST00000485349.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 17,
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"gene_symbol": "SKIC2",
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"hgvs_c": "n.2029-399G>A",
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"transcript": "ENST00000494058.6",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 16,
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"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "n.2125-399G>A",
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"transcript": "ENST00000697832.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SKIC2",
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"hgvs_c": "n.1972-399G>A",
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"transcript": "ENST00000697833.1",
"protein_id": "ENSP00000513454.1",
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},
{
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],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "SKIC2",
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"hgvs_c": "n.*1490-399G>A",
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"transcript": "ENST00000697835.1",
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},
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],
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},
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],
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"gene_symbol": "SKIC2",
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"hgvs_c": "n.1972-399G>A",
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"transcript": "ENST00000697837.1",
"protein_id": "ENSP00000513456.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 15,
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"gene_symbol": "SKIC2",
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"hgvs_c": "n.2255-399G>A",
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"transcript": "ENST00000697839.1",
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"strand": true,
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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": "SKIC2",
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"hgvs_c": "c.1972-399G>A",
"hgvs_p": null,
"transcript": "XM_011514815.4",
"protein_id": "XP_011513117.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SKIC2",
"gene_hgnc_id": 10898,
"hgvs_c": "c.1972-399G>A",
"hgvs_p": null,
"transcript": "XM_047419259.1",
"protein_id": "XP_047275215.1",
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},
{
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"strand": true,
"consequences": [
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],
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000375394.7",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}