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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: 5-36671219-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=36671219&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 36671219,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000265113.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "NM_004172.5",
"protein_id": "NP_004163.3",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 542,
"cds_start": 510,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": "ENST00000265113.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "ENST00000265113.9",
"protein_id": "ENSP00000265113.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 542,
"cds_start": 510,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": "NM_004172.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "ENST00000381918.4",
"protein_id": "ENSP00000371343.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 542,
"cds_start": 510,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "NM_001438458.1",
"protein_id": "NP_001425387.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 589,
"cds_start": 510,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "ENST00000680232.1",
"protein_id": "ENSP00000506207.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 589,
"cds_start": 510,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "NM_001438454.1",
"protein_id": "NP_001425383.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 542,
"cds_start": 510,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "NM_001438455.1",
"protein_id": "NP_001425384.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 542,
"cds_start": 510,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "NM_001438456.1",
"protein_id": "NP_001425385.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 542,
"cds_start": 510,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "NM_001438457.1",
"protein_id": "NP_001425386.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 542,
"cds_start": 510,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "ENST00000679983.1",
"protein_id": "ENSP00000505238.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 542,
"cds_start": 510,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 4466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "ENST00000679992.1",
"protein_id": "ENSP00000506585.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 542,
"cds_start": 510,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "ENST00000680318.1",
"protein_id": "ENSP00000505057.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 542,
"cds_start": 510,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "NM_001166695.3",
"protein_id": "NP_001160167.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 497,
"cds_start": 510,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "NM_001438459.1",
"protein_id": "NP_001425388.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
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"cds_start": 510,
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"cds_length": 1494,
"cdna_start": 823,
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"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "ENST00000680125.1",
"protein_id": "ENSP00000506424.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 497,
"cds_start": 510,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Phe170Leu",
"transcript": "ENST00000681926.1",
"protein_id": "ENSP00000505850.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 497,
"cds_start": 510,
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"cdna_start": 823,
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"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.372C>G",
"hgvs_p": "p.Phe124Leu",
"transcript": "NM_001289939.2",
"protein_id": "NP_001276868.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 496,
"cds_start": 372,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.372C>G",
"hgvs_p": "p.Phe124Leu",
"transcript": "ENST00000613445.5",
"protein_id": "ENSP00000477672.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 496,
"cds_start": 372,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.372C>G",
"hgvs_p": "p.Phe124Leu",
"transcript": "ENST00000681909.1",
"protein_id": "ENSP00000506599.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
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"cds_start": 372,
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"cdna_start": 848,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.228C>G",
"hgvs_p": "p.Phe76Leu",
"transcript": "NM_001438460.1",
"protein_id": "NP_001425389.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 448,
"cds_start": 228,
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"cdna_start": 923,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.210C>G",
"hgvs_p": "p.Phe70Leu",
"transcript": "NM_001438461.1",
"protein_id": "NP_001425390.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 442,
"cds_start": 210,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.189C>G",
"hgvs_p": "p.Phe63Leu",
"transcript": "NM_001438462.1",
"protein_id": "NP_001425391.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 435,
"cds_start": 189,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
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"phylop100way_prediction": "Benign",
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{
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"BS2"
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"verdict": "Likely_benign",
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{
"score": 0,
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],
"clinvar_disease": "Episodic ataxia type 6,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Episodic ataxia type 6",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}