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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: 10-28059656-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=28059656&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 28059656,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173496.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "NM_001318170.2",
"protein_id": "NP_001305099.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": "ENST00000683449.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318170.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000683449.1",
"protein_id": "ENSP00000507917.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": "NM_001318170.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683449.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000375719.7",
"protein_id": "ENSP00000364871.3",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375719.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "n.1292A>G",
"hgvs_p": null,
"transcript": "ENST00000496637.6",
"protein_id": "ENSP00000473899.1",
"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": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000496637.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1316A>G",
"hgvs_p": "p.Asn439Ser",
"transcript": "ENST00000893174.1",
"protein_id": "ENSP00000563233.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 584,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893174.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "NM_173496.5",
"protein_id": "NP_775767.2",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 5192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173496.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000337532.9",
"protein_id": "ENSP00000337907.5",
"transcript_support_level": 5,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 5080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337532.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000375732.5",
"protein_id": "ENSP00000364884.1",
"transcript_support_level": 2,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375732.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000893162.1",
"protein_id": "ENSP00000563221.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893162.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000893165.1",
"protein_id": "ENSP00000563224.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893165.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000893168.1",
"protein_id": "ENSP00000563227.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893168.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000893169.1",
"protein_id": "ENSP00000563228.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893169.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000935550.1",
"protein_id": "ENSP00000605609.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935550.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000957212.1",
"protein_id": "ENSP00000627271.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957212.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000957213.1",
"protein_id": "ENSP00000627272.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957213.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Asn431Ser",
"transcript": "ENST00000957214.1",
"protein_id": "ENSP00000627273.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 576,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957214.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Asn430Ser",
"transcript": "ENST00000893173.1",
"protein_id": "ENSP00000563232.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 575,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893173.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1286A>G",
"hgvs_p": "p.Asn429Ser",
"transcript": "ENST00000893164.1",
"protein_id": "ENSP00000563223.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 574,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893164.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1286A>G",
"hgvs_p": "p.Asn429Ser",
"transcript": "ENST00000893170.1",
"protein_id": "ENSP00000563229.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 574,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893170.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1211A>G",
"hgvs_p": "p.Asn404Ser",
"transcript": "ENST00000893163.1",
"protein_id": "ENSP00000563222.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 549,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893163.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1211A>G",
"hgvs_p": "p.Asn404Ser",
"transcript": "ENST00000893166.1",
"protein_id": "ENSP00000563225.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 549,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 4845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893166.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Asn387Ser",
"transcript": "ENST00000893171.1",
"protein_id": "ENSP00000563230.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 532,
"cds_start": 1160,
"cds_end": null,
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{
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"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}