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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: 3-11033739-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11033739&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 11033739,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000287766.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "NM_003042.4",
"protein_id": "NP_003033.3",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "ENST00000287766.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000287766.10",
"protein_id": "ENSP00000287766.4",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "NM_003042.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Ala533Ala",
"transcript": "ENST00000698198.1",
"protein_id": "ENSP00000513602.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 623,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1554G>A",
"hgvs_p": "p.Ala518Ala",
"transcript": "ENST00000644803.1",
"protein_id": "ENSP00000494469.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 608,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "NM_001348250.2",
"protein_id": "NP_001335179.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000642201.1",
"protein_id": "ENSP00000494778.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000642515.1",
"protein_id": "ENSP00000496348.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2931,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000642639.1",
"protein_id": "ENSP00000494191.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000642735.1",
"protein_id": "ENSP00000494050.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000642767.1",
"protein_id": "ENSP00000494346.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000642820.1",
"protein_id": "ENSP00000495900.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000643396.1",
"protein_id": "ENSP00000494136.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 4268,
"cdna_end": null,
"cdna_length": 6767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000643498.1",
"protein_id": "ENSP00000494997.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000645029.1",
"protein_id": "ENSP00000496171.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000645054.1",
"protein_id": "ENSP00000495751.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000645592.1",
"protein_id": "ENSP00000496619.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000645974.1",
"protein_id": "ENSP00000496390.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 4764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000646022.1",
"protein_id": "ENSP00000494134.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000646060.1",
"protein_id": "ENSP00000496302.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000646570.1",
"protein_id": "ENSP00000496064.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000646702.1",
"protein_id": "ENSP00000496697.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1527G>A",
"hgvs_p": "p.Ala509Ala",
"transcript": "ENST00000646924.1",
"protein_id": "ENSP00000493591.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 599,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1800,
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],
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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"inheritance_mode": "AD,Unknown",
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],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "Inborn genetic diseases|Epilepsy with myoclonic atonic seizures|not provided|SLC6A1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}