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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: 2-47806209-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47806209&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47806209,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001406795.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3652G>T",
"hgvs_p": "p.Gly1218Cys",
"transcript": "NM_000179.3",
"protein_id": "NP_000170.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3652,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000234420.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000179.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3652G>T",
"hgvs_p": "p.Gly1218Cys",
"transcript": "ENST00000234420.11",
"protein_id": "ENSP00000234420.5",
"transcript_support_level": 1,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3652,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000179.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234420.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "n.*2999G>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445503.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "n.*2999G>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445503.5"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3748G>T",
"hgvs_p": "p.Gly1250Cys",
"transcript": "NM_001406795.1",
"protein_id": "NP_001393724.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3748,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406795.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3679G>T",
"hgvs_p": "p.Gly1227Cys",
"transcript": "ENST00000936511.1",
"protein_id": "ENSP00000606570.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3679,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936511.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3658G>T",
"hgvs_p": "p.Gly1220Cys",
"transcript": "NM_001406813.1",
"protein_id": "NP_001393742.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1362,
"cds_start": 3658,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406813.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3658G>T",
"hgvs_p": "p.Gly1220Cys",
"transcript": "ENST00000700002.1",
"protein_id": "ENSP00000514750.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1362,
"cds_start": 3658,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700002.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3652G>T",
"hgvs_p": "p.Gly1218Cys",
"transcript": "NM_001406796.1",
"protein_id": "NP_001393725.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3652,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406796.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3652G>T",
"hgvs_p": "p.Gly1218Cys",
"transcript": "NM_001406809.1",
"protein_id": "NP_001393738.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3652,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406809.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3652G>T",
"hgvs_p": "p.Gly1218Cys",
"transcript": "ENST00000895687.1",
"protein_id": "ENSP00000565746.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3652,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895687.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3649G>T",
"hgvs_p": "p.Gly1217Cys",
"transcript": "ENST00000936508.1",
"protein_id": "ENSP00000606567.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3649,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936508.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3652G>T",
"hgvs_p": "p.Gly1218Cys",
"transcript": "NM_001406808.1",
"protein_id": "NP_001393737.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3652,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406808.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3574G>T",
"hgvs_p": "p.Gly1192Cys",
"transcript": "NM_001406804.1",
"protein_id": "NP_001393733.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1334,
"cds_start": 3574,
"cds_end": null,
"cds_length": 4005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406804.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3652G>T",
"hgvs_p": "p.Gly1218Cys",
"transcript": "NM_001406800.1",
"protein_id": "NP_001393729.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3652,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406800.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3748G>T",
"hgvs_p": "p.Gly1250Cys",
"transcript": "NM_001406802.1",
"protein_id": "NP_001393731.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3748,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406802.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3484G>T",
"hgvs_p": "p.Gly1162Cys",
"transcript": "NM_001406826.1",
"protein_id": "NP_001393755.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3484,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406826.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3478G>T",
"hgvs_p": "p.Gly1160Cys",
"transcript": "NM_001406798.1",
"protein_id": "NP_001393727.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3478,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406798.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3478G>T",
"hgvs_p": "p.Gly1160Cys",
"transcript": "ENST00000936509.1",
"protein_id": "ENSP00000606568.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3478,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936509.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3355G>T",
"hgvs_p": "p.Gly1119Cys",
"transcript": "NM_001406797.1",
"protein_id": "NP_001393726.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406797.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3355G>T",
"hgvs_p": "p.Gly1119Cys",
"transcript": "NM_001406805.1",
"protein_id": "NP_001393734.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406805.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3355G>T",
"hgvs_p": "p.Gly1119Cys",
"transcript": "NM_001406818.1",
"protein_id": "NP_001393747.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 8,
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"acmg_by_gene": [
{
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"criteria": [
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"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001406795.1",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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{
"score": 6,
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}