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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: 8-42856341-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42856341&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42856341,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030954.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "NM_030954.4",
"protein_id": "NP_112216.3",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000527424.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030954.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000527424.6",
"protein_id": "ENSP00000434797.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030954.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527424.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000534961.5",
"protein_id": "ENSP00000445725.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534961.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000526349.5",
"protein_id": "ENSP00000435782.1",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 174,
"cds_start": 343,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526349.5"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.397-5344C>T",
"hgvs_p": null,
"transcript": "ENST00000319104.7",
"protein_id": "ENSP00000326138.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319104.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "NM_001160223.2",
"protein_id": "NP_001153695.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160223.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000862754.1",
"protein_id": "ENSP00000532813.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862754.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000862755.1",
"protein_id": "ENSP00000532814.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862755.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000862758.1",
"protein_id": "ENSP00000532817.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862758.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000862760.1",
"protein_id": "ENSP00000532819.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862760.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000862761.1",
"protein_id": "ENSP00000532820.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862761.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000862762.1",
"protein_id": "ENSP00000532821.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862762.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000862763.1",
"protein_id": "ENSP00000532822.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862763.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000913384.1",
"protein_id": "ENSP00000583443.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913384.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000969234.1",
"protein_id": "ENSP00000639293.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969234.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000969235.1",
"protein_id": "ENSP00000639294.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 258,
"cds_start": 595,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969235.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000862753.1",
"protein_id": "ENSP00000532812.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 221,
"cds_start": 484,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862753.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000969232.1",
"protein_id": "ENSP00000639291.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 221,
"cds_start": 484,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969232.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000862756.1",
"protein_id": "ENSP00000532815.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 208,
"cds_start": 445,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862756.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000862759.1",
"protein_id": "ENSP00000532818.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 208,
"cds_start": 445,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862759.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138Cys",
"transcript": "ENST00000862757.1",
"protein_id": "ENSP00000532816.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 197,
"cds_start": 412,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862757.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF170",
"gene_hgnc_id": 25358,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "NM_001160225.2",
"protein_id": "NP_001153697.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 174,
"cds_start": 343,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160225.2"
},
{
"aa_ref": "R",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Autosomal dominant sensory ataxia 1|Spastic paraplegia 85, autosomal recessive",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}