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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: 6-70477264-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70477264&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 70477264,
"ref": "C",
"alt": "G",
"effect": "stop_gained",
"transcript": "ENST00000418814.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001162529.3",
"protein_id": "NP_001156001.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1515,
"cds_start": 474,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 6215,
"mane_select": "ENST00000418814.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "ENST00000418814.7",
"protein_id": "ENSP00000410768.2",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 1515,
"cds_start": 474,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 6215,
"mane_select": "NM_001162529.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "ENST00000370479.7",
"protein_id": "ENSP00000359510.4",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 1515,
"cds_start": 474,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "ENST00000361499.7",
"protein_id": "ENSP00000354913.3",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 1319,
"cds_start": 474,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.345C>G",
"hgvs_p": "p.Tyr115*",
"transcript": "ENST00000457062.6",
"protein_id": "ENSP00000409201.2",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 1302,
"cds_start": 345,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 5282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001330996.3",
"protein_id": "NP_001317925.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1541,
"cds_start": 474,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 6199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001330999.3",
"protein_id": "NP_001317928.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1541,
"cds_start": 474,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001351599.2",
"protein_id": "NP_001338528.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1541,
"cds_start": 474,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001438501.1",
"protein_id": "NP_001425430.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1541,
"cds_start": 474,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001438502.1",
"protein_id": "NP_001425431.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1541,
"cds_start": 474,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001438503.1",
"protein_id": "NP_001425432.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1541,
"cds_start": 474,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 6339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001351600.2",
"protein_id": "NP_001338529.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1515,
"cds_start": 474,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001351602.2",
"protein_id": "NP_001338531.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1515,
"cds_start": 474,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 6303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001351607.2",
"protein_id": "NP_001338536.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1515,
"cds_start": 474,
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"cds_length": 4548,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 6333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001438504.1",
"protein_id": "NP_001425433.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1515,
"cds_start": 474,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001438505.1",
"protein_id": "NP_001425434.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1515,
"cds_start": 474,
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"cdna_start": 989,
"cdna_end": null,
"cdna_length": 6316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001438506.1",
"protein_id": "NP_001425435.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1515,
"cds_start": 474,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.375C>G",
"hgvs_p": "p.Tyr125*",
"transcript": "NM_001438507.1",
"protein_id": "NP_001425436.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 1508,
"cds_start": 375,
"cds_end": null,
"cds_length": 4527,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.375C>G",
"hgvs_p": "p.Tyr125*",
"transcript": "NM_001331005.3",
"protein_id": "NP_001317934.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 1482,
"cds_start": 375,
"cds_end": null,
"cds_length": 4449,
"cdna_start": 678,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "ENST00000505868.1",
"protein_id": "ENSP00000423307.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 1469,
"cds_start": 474,
"cds_end": null,
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"cdna_start": 474,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001330998.3",
"protein_id": "NP_001317927.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1345,
"cds_start": 474,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 5705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001331003.3",
"protein_id": "NP_001317932.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1345,
"cds_start": 474,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 5793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM135A",
"gene_hgnc_id": 21084,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "NM_001438508.1",
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"inheritance_mode": "AR",
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*"
}
],
"clinvar_disease": "Histiocytoid cardiomyopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Histiocytoid cardiomyopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}