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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: 6-70528402-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70528402&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 70528402,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000418814.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "NM_001162529.3",
"protein_id": "NP_001156001.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4139,
"cdna_end": null,
"cdna_length": 6215,
"mane_select": "ENST00000418814.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "ENST00000418814.7",
"protein_id": "ENSP00000410768.2",
"transcript_support_level": 5,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4139,
"cdna_end": null,
"cdna_length": 6215,
"mane_select": "NM_001162529.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "ENST00000370479.7",
"protein_id": "ENSP00000359510.4",
"transcript_support_level": 1,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 3858,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3137A>C",
"hgvs_p": "p.Asp1046Ala",
"transcript": "ENST00000361499.7",
"protein_id": "ENSP00000354913.3",
"transcript_support_level": 1,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3137,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3481,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3086A>C",
"hgvs_p": "p.Asp1029Ala",
"transcript": "ENST00000457062.6",
"protein_id": "ENSP00000409201.2",
"transcript_support_level": 1,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3356,
"cdna_end": null,
"cdna_length": 5282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3803A>C",
"hgvs_p": "p.Asp1268Ala",
"transcript": "NM_001330996.3",
"protein_id": "NP_001317925.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1541,
"cds_start": 3803,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 4123,
"cdna_end": null,
"cdna_length": 6199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3803A>C",
"hgvs_p": "p.Asp1268Ala",
"transcript": "NM_001330999.3",
"protein_id": "NP_001317928.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1541,
"cds_start": 3803,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 4217,
"cdna_end": null,
"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3803A>C",
"hgvs_p": "p.Asp1268Ala",
"transcript": "NM_001351599.2",
"protein_id": "NP_001338528.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1541,
"cds_start": 3803,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 4131,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3803A>C",
"hgvs_p": "p.Asp1268Ala",
"transcript": "NM_001438501.1",
"protein_id": "NP_001425430.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1541,
"cds_start": 3803,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 4305,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3803A>C",
"hgvs_p": "p.Asp1268Ala",
"transcript": "NM_001438502.1",
"protein_id": "NP_001425431.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1541,
"cds_start": 3803,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 4318,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3803A>C",
"hgvs_p": "p.Asp1268Ala",
"transcript": "NM_001438503.1",
"protein_id": "NP_001425432.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1541,
"cds_start": 3803,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 4263,
"cdna_end": null,
"cdna_length": 6339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "NM_001351600.2",
"protein_id": "NP_001338529.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "NM_001351602.2",
"protein_id": "NP_001338531.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4227,
"cdna_end": null,
"cdna_length": 6303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "NM_001351607.2",
"protein_id": "NP_001338536.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4257,
"cdna_end": null,
"cdna_length": 6333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "NM_001438504.1",
"protein_id": "NP_001425433.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4185,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "NM_001438505.1",
"protein_id": "NP_001425434.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4240,
"cdna_end": null,
"cdna_length": 6316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "NM_001438506.1",
"protein_id": "NP_001425435.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4045,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3704A>C",
"hgvs_p": "p.Asp1235Ala",
"transcript": "NM_001438507.1",
"protein_id": "NP_001425436.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1508,
"cds_start": 3704,
"cds_end": null,
"cds_length": 4527,
"cdna_start": 4007,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3626A>C",
"hgvs_p": "p.Asp1209Ala",
"transcript": "NM_001331005.3",
"protein_id": "NP_001317934.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1482,
"cds_start": 3626,
"cds_end": null,
"cds_length": 4449,
"cdna_start": 3929,
"cdna_end": null,
"cdna_length": 6005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Asp1242Ala",
"transcript": "ENST00000505868.1",
"protein_id": "ENSP00000423307.1",
"transcript_support_level": 5,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 3725,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3215A>C",
"hgvs_p": "p.Asp1072Ala",
"transcript": "NM_001330998.3",
"protein_id": "NP_001317927.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1345,
"cds_start": 3215,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 3629,
"cdna_end": null,
"cdna_length": 5705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.3215A>C",
"hgvs_p": "p.Asp1072Ala",
"transcript": "NM_001331003.3",
"protein_id": "NP_001317932.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1345,
"cds_start": 3215,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 3717,
"cdna_end": null,
"cdna_length": 5793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
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}