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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: 2-47800295-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47800295&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47800295,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000179.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2312A>C",
"hgvs_p": "p.Lys771Thr",
"transcript": "NM_000179.3",
"protein_id": "NP_000170.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1360,
"cds_start": 2312,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": "ENST00000234420.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2312A>C",
"hgvs_p": "p.Lys771Thr",
"transcript": "ENST00000234420.11",
"protein_id": "ENSP00000234420.5",
"transcript_support_level": 1,
"aa_start": 771,
"aa_end": null,
"aa_length": 1360,
"cds_start": 2312,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": "NM_000179.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "n.*1659A>C",
"hgvs_p": null,
"transcript": "ENST00000445503.5",
"protein_id": "ENSP00000405294.1",
"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": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "n.*1659A>C",
"hgvs_p": null,
"transcript": "ENST00000445503.5",
"protein_id": "ENSP00000405294.1",
"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": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2408A>C",
"hgvs_p": "p.Lys803Thr",
"transcript": "NM_001406795.1",
"protein_id": "NP_001393724.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2408,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2318A>C",
"hgvs_p": "p.Lys773Thr",
"transcript": "NM_001406813.1",
"protein_id": "NP_001393742.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1362,
"cds_start": 2318,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2318A>C",
"hgvs_p": "p.Lys773Thr",
"transcript": "ENST00000700002.1",
"protein_id": "ENSP00000514750.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1362,
"cds_start": 2318,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2312A>C",
"hgvs_p": "p.Lys771Thr",
"transcript": "NM_001406796.1",
"protein_id": "NP_001393725.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1360,
"cds_start": 2312,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2312A>C",
"hgvs_p": "p.Lys771Thr",
"transcript": "NM_001406809.1",
"protein_id": "NP_001393738.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1360,
"cds_start": 2312,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2312A>C",
"hgvs_p": "p.Lys771Thr",
"transcript": "NM_001406808.1",
"protein_id": "NP_001393737.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1337,
"cds_start": 2312,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2234A>C",
"hgvs_p": "p.Lys745Thr",
"transcript": "NM_001406804.1",
"protein_id": "NP_001393733.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1334,
"cds_start": 2234,
"cds_end": null,
"cds_length": 4005,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2312A>C",
"hgvs_p": "p.Lys771Thr",
"transcript": "NM_001406800.1",
"protein_id": "NP_001393729.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1321,
"cds_start": 2312,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2408A>C",
"hgvs_p": "p.Lys803Thr",
"transcript": "NM_001406802.1",
"protein_id": "NP_001393731.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1304,
"cds_start": 2408,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2144A>C",
"hgvs_p": "p.Lys715Thr",
"transcript": "NM_001406826.1",
"protein_id": "NP_001393755.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 1304,
"cds_start": 2144,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 2524,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2312A>C",
"hgvs_p": "p.Lys771Thr",
"transcript": "NM_001406798.1",
"protein_id": "NP_001393727.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1302,
"cds_start": 2312,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "NM_001406797.1",
"protein_id": "NP_001393726.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2015,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "NM_001406805.1",
"protein_id": "NP_001393734.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2015,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "NM_001406818.1",
"protein_id": "NP_001393747.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2015,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "NM_001406819.1",
"protein_id": "NP_001393748.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
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"cds_start": 2015,
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"cdna_start": 2205,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "NM_001406820.1",
"protein_id": "NP_001393749.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2015,
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"cds_length": 3786,
"cdna_start": 2106,
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"cdna_length": 3970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "NM_001406821.1",
"protein_id": "NP_001393750.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2015,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "NM_001406824.1",
"protein_id": "NP_001393753.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2015,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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{
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],
"verdict": "Likely_pathogenic",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Hereditary nonpolyposis colorectal neoplasms",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}