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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: 2-47803468-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47803468&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47803468,
"ref": "T",
"alt": "A",
"effect": "start_lost",
"transcript": "NM_001406831.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"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.3221T>A",
"hgvs_p": "p.Met1074Lys",
"transcript": "NM_000179.3",
"protein_id": "NP_000170.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3221,
"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": "M",
"aa_alt": "K",
"canonical": true,
"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.3221T>A",
"hgvs_p": "p.Met1074Lys",
"transcript": "ENST00000234420.11",
"protein_id": "ENSP00000234420.5",
"transcript_support_level": 1,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3221,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "n.*2568T>A",
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "n.*2568T>A",
"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": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001406831.1",
"protein_id": "NP_001393760.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 287,
"cds_start": 2,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406831.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3317T>A",
"hgvs_p": "p.Met1106Lys",
"transcript": "NM_001406795.1",
"protein_id": "NP_001393724.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3317,
"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": "M",
"aa_alt": "K",
"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.3248T>A",
"hgvs_p": "p.Met1083Lys",
"transcript": "ENST00000936511.1",
"protein_id": "ENSP00000606570.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3248,
"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": "M",
"aa_alt": "K",
"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.3227T>A",
"hgvs_p": "p.Met1076Lys",
"transcript": "NM_001406813.1",
"protein_id": "NP_001393742.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1362,
"cds_start": 3227,
"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": "M",
"aa_alt": "K",
"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.3227T>A",
"hgvs_p": "p.Met1076Lys",
"transcript": "ENST00000700002.1",
"protein_id": "ENSP00000514750.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1362,
"cds_start": 3227,
"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": "M",
"aa_alt": "K",
"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.3221T>A",
"hgvs_p": "p.Met1074Lys",
"transcript": "NM_001406796.1",
"protein_id": "NP_001393725.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3221,
"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": "M",
"aa_alt": "K",
"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.3221T>A",
"hgvs_p": "p.Met1074Lys",
"transcript": "NM_001406809.1",
"protein_id": "NP_001393738.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3221,
"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": "M",
"aa_alt": "K",
"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.3221T>A",
"hgvs_p": "p.Met1074Lys",
"transcript": "ENST00000895687.1",
"protein_id": "ENSP00000565746.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3221,
"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": "M",
"aa_alt": "K",
"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.3221T>A",
"hgvs_p": "p.Met1074Lys",
"transcript": "ENST00000936508.1",
"protein_id": "ENSP00000606567.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3221,
"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": "M",
"aa_alt": "K",
"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.3221T>A",
"hgvs_p": "p.Met1074Lys",
"transcript": "NM_001406808.1",
"protein_id": "NP_001393737.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3221,
"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": "M",
"aa_alt": "K",
"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.3143T>A",
"hgvs_p": "p.Met1048Lys",
"transcript": "NM_001406804.1",
"protein_id": "NP_001393733.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1334,
"cds_start": 3143,
"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": "M",
"aa_alt": "K",
"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.3221T>A",
"hgvs_p": "p.Met1074Lys",
"transcript": "NM_001406800.1",
"protein_id": "NP_001393729.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3221,
"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": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3317T>A",
"hgvs_p": "p.Met1106Lys",
"transcript": "NM_001406802.1",
"protein_id": "NP_001393731.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3317,
"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": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3053T>A",
"hgvs_p": "p.Met1018Lys",
"transcript": "NM_001406826.1",
"protein_id": "NP_001393755.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3053,
"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": "M",
"aa_alt": "K",
"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.2924T>A",
"hgvs_p": "p.Met975Lys",
"transcript": "NM_001406797.1",
"protein_id": "NP_001393726.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2924,
"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": "M",
"aa_alt": "K",
"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.2924T>A",
"hgvs_p": "p.Met975Lys",
"transcript": "NM_001406805.1",
"protein_id": "NP_001393734.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2924,
"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": "M",
"aa_alt": "K",
"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.2924T>A",
"hgvs_p": "p.Met975Lys",
"transcript": "NM_001406818.1",
"protein_id": "NP_001393747.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2924,
"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_001406818.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"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.2924T>A",
"hgvs_p": "p.Met975Lys",
"transcript": "NM_001406819.1",
"protein_id": "NP_001393748.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1261,
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{
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"PM2"
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"verdict": "Pathogenic",
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{
"score": 4,
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"verdict": "Uncertain_significance",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}