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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: 8-42856310-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42856310&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42856310,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030954.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "NM_030954.4",
"protein_id": "NP_112216.3",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": "ENST00000527424.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030954.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000527424.6",
"protein_id": "ENSP00000434797.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": "NM_030954.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527424.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000534961.5",
"protein_id": "ENSP00000445725.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534961.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.374C>G",
"hgvs_p": "p.Ala125Gly",
"transcript": "ENST00000526349.5",
"protein_id": "ENSP00000435782.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 174,
"cds_start": 374,
"cds_end": null,
"cds_length": 525,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 1338,
"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.397-5313C>G",
"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": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319104.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "NM_001160223.2",
"protein_id": "NP_001153695.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160223.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000862754.1",
"protein_id": "ENSP00000532813.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862754.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000862755.1",
"protein_id": "ENSP00000532814.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862755.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000862758.1",
"protein_id": "ENSP00000532817.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862758.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000862760.1",
"protein_id": "ENSP00000532819.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862760.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000862761.1",
"protein_id": "ENSP00000532820.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862761.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000862762.1",
"protein_id": "ENSP00000532821.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862762.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000862763.1",
"protein_id": "ENSP00000532822.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862763.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000913384.1",
"protein_id": "ENSP00000583443.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913384.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000969234.1",
"protein_id": "ENSP00000639293.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969234.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.626C>G",
"hgvs_p": "p.Ala209Gly",
"transcript": "ENST00000969235.1",
"protein_id": "ENSP00000639294.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 258,
"cds_start": 626,
"cds_end": null,
"cds_length": 777,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969235.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.515C>G",
"hgvs_p": "p.Ala172Gly",
"transcript": "ENST00000862753.1",
"protein_id": "ENSP00000532812.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 221,
"cds_start": 515,
"cds_end": null,
"cds_length": 666,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862753.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.515C>G",
"hgvs_p": "p.Ala172Gly",
"transcript": "ENST00000969232.1",
"protein_id": "ENSP00000639291.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 221,
"cds_start": 515,
"cds_end": null,
"cds_length": 666,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969232.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.476C>G",
"hgvs_p": "p.Ala159Gly",
"transcript": "ENST00000862756.1",
"protein_id": "ENSP00000532815.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 208,
"cds_start": 476,
"cds_end": null,
"cds_length": 627,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862756.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.476C>G",
"hgvs_p": "p.Ala159Gly",
"transcript": "ENST00000862759.1",
"protein_id": "ENSP00000532818.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 208,
"cds_start": 476,
"cds_end": null,
"cds_length": 627,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862759.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.443C>G",
"hgvs_p": "p.Ala148Gly",
"transcript": "ENST00000862757.1",
"protein_id": "ENSP00000532816.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 197,
"cds_start": 443,
"cds_end": null,
"cds_length": 594,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862757.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.374C>G",
"hgvs_p": "p.Ala125Gly",
"transcript": "NM_001160225.2",
"protein_id": "NP_001153697.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 174,
"cds_start": 374,
"cds_end": null,
"cds_length": 525,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160225.2"
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{
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{
"score": 2,
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],
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}